biomarker_id biomarker assessed_biomarker_entity assessed_biomarker_entity_id assessed_entity_type condition condition_id exposure_agent exposure_agent_id best_biomarker_role specimen specimen_id loinc_code evidence_source evidence tag vocab_pattern biomarker_controlled_vocab component_group flags AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-3-methylglutaric acid 3-hydroxy-3-methylglutaric acid PCCID:1662 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-3-methylglutaric acid/PCCID:1662 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-hydroxy-isovaleric acid 3-hydroxy-isovaleric acid PCCID:69362 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxy-isovaleric acid/PCCID:69362 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaconic acid 3-methylglutaconic acid PCCID:1551553 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaconic acid/PCCID:1551553 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased 3-methylglutaric acid 3-methylglutaric acid PCCID:12284 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic urine UBERON:0001088 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-methylglutaric acid/PCCID:12284 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:32685354 The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:6489380 Urinary organic acid analysis, performed as described below, revealed metabolites suggestive of 3-hydroxy-3-methylglutaric aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:15164951 A preliminary diagnosis can be obtained from the characteristic urinary organic acid profiles, which include 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:15505778 Urine excretion of 3-hydroxy-isovaleric acid, 3-methyl-glutaric acid, 3-methyl-glutaconic acid, and 3-hydroxy-3-methylglutaric acid were increased as determined by gas chromatography mass spectrometry (see Table). These metabolites were considered diagnostic of HMG CoA lyase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:1000872 The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria contains excessive amounts of 3-methylglutaconic acid, 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:3063529 Each of the patients has excreted large amounts of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid in the urine;|The pattern of organic aciduria associated with HMG-CoA lyase deficiency is characteristic. It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:6085636 3-Hydroxy-3-methylglutaric acidura has been reported in 10 patients. This disorder is caused by a deficiency in activity of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid, and elevated amounts of 3-methylglutaric acid and 3-hydroxyisovaleric acid.;|In each urine sample there were very highly elevated amounts of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6165-1 Increased C6DC acylcarnitine C6DC acylcarnitine PCCID:71296139 metabolite 3-Hydroxy-3-Methylglutaric Aciduria OMIM:246450 diagnostic plasma UBERON:0001969 PubMed:17692550 A preliminary diagnosis of HL deficiency may be indicated by the characteristic urinary organic acid profile, which includes high levels of 3-hydroxy-3-methylglutaric acid, 3-hydroxy-isovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c6DC acylcarnitine/PCCID:71296139 200347 AN6166-1 Increased 3-Hydroxyisovaleric acid 3-Hydroxyisovaleric acid PCCID:69362 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:16010683 Patients with MCC deficiency show elevated urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Hydroxyisovaleric acid/PCCID:69362 200348 AN6166-1 Increased 3-Hydroxyisovaleric acid 3-Hydroxyisovaleric acid PCCID:69362 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11131348 Patients with MCC deficiency show persistently high urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Hydroxyisovaleric acid/PCCID:69362 200348 AN6166-1 Increased 3-Hydroxyisovaleric acid 3-Hydroxyisovaleric acid PCCID:69362 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11181649 There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Hydroxyisovaleric acid/PCCID:69362 200348 AN6166-1 Increased 3-Hydroxyisovaleric acid 3-Hydroxyisovaleric acid PCCID:69362 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11170888 The metabolic phenotype characterizing MCC deficiency is the elevated excretion of the diagnostic compounds 3-methylcrotonylglycine or 3-hydroxyisovaleric acid assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Hydroxyisovaleric acid/PCCID:69362 200348 AN6166-1 Increased 3-Hydroxyisovaleric acid 3-Hydroxyisovaleric acid PCCID:69362 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-Hydroxyisovaleric acid/PCCID:69362 200348 AN6166-1 Increased 3-Methylcrotonylglycine 3-Methylcrotonylglycine PCCID:169485 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:16010683 Patients with MCC deficiency show elevated urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Methylcrotonylglycine/PCCID:169485 200348 AN6166-1 Increased 3-Methylcrotonylglycine 3-Methylcrotonylglycine PCCID:169485 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11131348 Patients with MCC deficiency show persistently high urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Methylcrotonylglycine/PCCID:169485 200348 AN6166-1 Increased 3-Methylcrotonylglycine 3-Methylcrotonylglycine PCCID:169485 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11170888 The metabolic phenotype characterizing MCC deficiency is the elevated excretion of the diagnostic compounds 3-methylcrotonylglycine or 3-hydroxyisovaleric acid assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Methylcrotonylglycine/PCCID:169485 200348 AN6166-1 Increased 3-Methylcrotonylglycine 3-Methylcrotonylglycine PCCID:169485 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:11181649 There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-Methylcrotonylglycine/PCCID:169485 200348 AN6166-1 Increased 3-Methylcrotonylglycine 3-Methylcrotonylglycine PCCID:169485 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-Methylcrotonylglycine/PCCID:169485 200348 AN6166-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic plasma UBERON:0001969 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200348 AN6166-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic plasma UBERON:0001969 PubMed:11170888 The metabolic phenotype characterizing MCC deficiency is the elevated excretion of the diagnostic compounds 3-methylcrotonylglycine or 3-hydroxyisovaleric acid best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200348 AN6166-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic plasma UBERON:0001969 PubMed:16010683 Patients with MCC deficiency show elevated urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200348 AN6166-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic plasma UBERON:0001969 PubMed:11131348 Patients with MCC deficiency show persistently high urinary excretion of 3-hydroxyisovalerate (3-HIVA) and 3-methylcrotonylglycine (3-MCG) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200348 AN6166-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 diagnostic plasma UBERON:0001969 PubMed:11181649 There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200348 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7299555 Urinalysis demonstrated persistent moderate ketonuria on all determinations over this time period, and excretion of a-methyl acetoacetic acid, a-methyl-b-hydroxybutyric acid, and butanone was elevated. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:4143539 The major, unusual organic acids in the patients urine were a-methyl-b-hydroxybutyric acid and a-methylacetoacetate. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:30835345 Biochemical markers for beta-ketothiolase deficiency include high blood methylcrotonyl carnitine and urinary 2-methyl-3-hydroxybutyric acid. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 DOI:10.1203/00006450-199402000-00076 Elevated 2-methyl-3-hydroxybutyric acid and triglyglycine excretion in urine are confirmed biomarkers for Ketothiolase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:34001203 Almost all patients (23/25, 95%) exhibited elevated C5OH and C5:1 levels.;|Most patients exhibited typical blood acylcarnitine and urinary organic acid profiles. Interestingly, almost all patients (15/16, 94%) showed elevated 3-hydroxybutyrylcarnitine (C4OH) levels. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7923765 Tiglyglycine is increased in the urine of patients with beta-ketothiolase deficiency and may serve as a diagnostic marker for disorders of the respiratory chain. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:20157782 Concentrations were well beyond the cut-off values of tiglyl carnitine, 3-hydroxybutyrylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine, 2-methyl-3-hydroxybutyric acid and tiglyl glycine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 2-methyl-3-hydroxybutyric acid 2-methyl-3-hydroxybutyric acid PCCID:160471 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7173255 Elevated urinary tiglyglycine levels are found in patients with beta-ketothiolase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methyl-3-hydroxybutyric acid/PCCID:160471 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:34001203 Almost all patients (23/25, 95%) exhibited elevated C5OH and C5:1 levels.;|Most patients exhibited typical blood acylcarnitine and urinary organic acid profiles. Interestingly, almost all patients (15/16, 94%) showed elevated 3-hydroxybutyrylcarnitine (C4OH) levels. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:20157782 Concentrations were well beyond the cut-off values of tiglyl carnitine, 3-hydroxybutyrylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine, 2-methyl-3-hydroxybutyric acid and tiglyl glycine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:4143539 The major, unusual organic acids in the patients urine were a-methyl-b-hydroxybutyric acid and a-methylacetoacetate. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 DOI:10.1203/00006450-199402000-00076 Elevated 2-methyl-3-hydroxybutyric acid and triglyglycine excretion in urine are confirmed biomarkers for Ketothiolase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7923765 Tiglyglycine is increased in the urine of patients with beta-ketothiolase deficiency and may serve as a diagnostic marker for disorders of the respiratory chain. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:30835345 Biochemical markers for beta-ketothiolase deficiency include high blood methylcrotonyl carnitine and urinary 2-methyl-3-hydroxybutyric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7299555 Urinalysis demonstrated persistent moderate ketonuria on all determinations over this time period, and excretion of a-methyl acetoacetic acid, a-methyl-b-hydroxybutyric acid, and butanone was elevated. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased 3-hydroxybutyrylcarnitine 3-hydroxybutyrylcarnitine PCCID:71464477 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7173255 Elevated urinary tiglyglycine levels are found in patients with beta-ketothiolase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxybutyrylcarnitine/PCCID:71464477 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:34001203 Almost all patients (23/25, 95%) exhibited elevated C5OH and C5:1 levels.;|Most patients exhibited typical blood acylcarnitine and urinary organic acid profiles. Interestingly, almost all patients (15/16, 94%) showed elevated 3-hydroxybutyrylcarnitine (C4OH) levels. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:4143539 The major, unusual organic acids in the patients urine were a-methyl-b-hydroxybutyric acid and a-methylacetoacetate. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 DOI:10.1203/00006450-199402000-00076 Elevated 2-methyl-3-hydroxybutyric acid and triglyglycine excretion in urine are confirmed biomarkers for Ketothiolase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7923765 Tiglyglycine is increased in the urine of patients with beta-ketothiolase deficiency and may serve as a diagnostic marker for disorders of the respiratory chain. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:20157782 Concentrations were well beyond the cut-off values of tiglyl carnitine, 3-hydroxybutyrylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine, 2-methyl-3-hydroxybutyric acid and tiglyl glycine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:30835345 Biochemical markers for beta-ketothiolase deficiency include high blood methylcrotonyl carnitine and urinary 2-methyl-3-hydroxybutyric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7299555 Urinalysis demonstrated persistent moderate ketonuria on all determinations over this time period, and excretion of a-methyl acetoacetic acid, a-methyl-b-hydroxybutyric acid, and butanone was elevated. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased C5-OH acylcarnitine C5-OH acylcarnitine PCCID:71464474 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic plasma UBERON:0001969 PubMed:7173255 Elevated urinary tiglyglycine levels are found in patients with beta-ketothiolase deficiency. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c5-OH acylcarnitine/PCCID:71464474 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7923765 Tiglyglycine is increased in the urine of patients with beta-ketothiolase deficiency and may serve as a diagnostic marker for disorders of the respiratory chain. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7173255 Elevated urinary tiglyglycine levels are found in patients with beta-ketothiolase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 DOI:10.1203/00006450-199402000-00076 Elevated 2-methyl-3-hydroxybutyric acid and triglyglycine excretion in urine are confirmed biomarkers for Ketothiolase deficiency. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:4143539 The major, unusual organic acids in the patients urine were a-methyl-b-hydroxybutyric acid and a-methylacetoacetate. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:34001203 Almost all patients (23/25, 95%) exhibited elevated C5OH and C5:1 levels.;|Most patients exhibited typical blood acylcarnitine and urinary organic acid profiles. Interestingly, almost all patients (15/16, 94%) showed elevated 3-hydroxybutyrylcarnitine (C4OH) levels. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:18088573 Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:20157782 Concentrations were well beyond the cut-off values of tiglyl carnitine, 3-hydroxybutyrylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine, 2-methyl-3-hydroxybutyric acid and tiglyl glycine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:30835345 Biochemical markers for beta-ketothiolase deficiency include high blood methylcrotonyl carnitine and urinary 2-methyl-3-hydroxybutyric acid. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6167-1 Increased tiglylglycine Tiglylglycine PCCID:6441567 metabolite 3-Ketothiolase Deficiency OMIM:203750 diagnostic urine UBERON:0001088 PubMed:7299555 Urinalysis demonstrated persistent moderate ketonuria on all determinations over this time period, and excretion of a-methyl acetoacetic acid, a-methyl-b-hydroxybutyric acid, and butanone was elevated. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite tiglylglycine/PCCID:6441567 200349 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:22728054 Plasma glutarylcarnitine and urinary 3-hydroxyglutaric acid were elevated in all patients assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:16602100 Glutaric acidemia type 1 produces carnitine deficiency and increases levels of C5 dicarboxylic (glutaryl) carnitine in urine and plasma;|This disorder can be identified by increased glutaryl (C5DC) carnitine on newborn screening.;|With urine organic acid analysis, 3-OH-glutaric acid is the diagnostic metabolite assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:31536184 GA-1 is suspected during the diagnostic evaluation of a newborn with an elevated concentration of 3-OH-GA in plasma or urine assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:36221165 GCDH deficiency results in accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid and glutarylcarnitine (C5DC) which can be detected in body fluids (urine, plasma, cerebrospinal fluid [CSF]) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:8552212 The biochemical picture is characterized by the large amounts of glutaric, 3-hydroxyglutaric and glutaconic acids in the urine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:21431622 This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased 3-hydroxyglutaric acid 3-hydroxyglutaric acid PCCID:181976 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:25256449 Urine organic acid analysis usually shows increased levels of glutaric acid (GA), 3-hydroxyglutaric acid (3OHGA), glutaryl-CoA, glutarylcarnitine, and glutaconic acids, although glutaric acid and dicarboxylic carnitines can be completely normal in some patients. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxyglutaric acid/PCCID:181976 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:25256449 Urine organic acid analysis usually shows increased levels of glutaric acid (GA), 3-hydroxyglutaric acid (3OHGA), glutaryl-CoA, glutarylcarnitine, and glutaconic acids, although glutaric acid and dicarboxylic carnitines can be completely normal in some patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:8552212 The biochemical picture is characterized by the large amounts of glutaric, 3-hydroxyglutaric and glutaconic acids in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:16602100 Glutaric acidemia type 1 produces carnitine deficiency and increases levels of C5 dicarboxylic (glutaryl) carnitine in urine and plasma;|This disorder can be identified by increased glutaryl (C5DC) carnitine on newborn screening.;|With urine organic acid analysis, 3-OH-glutaric acid is the diagnostic metabolite best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:36221165 GCDH deficiency results in accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid and glutarylcarnitine (C5DC) which can be detected in body fluids (urine, plasma, cerebrospinal fluid [CSF]) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:31536184 GA-1 is suspected during the diagnostic evaluation of a newborn with an elevated concentration of 3-OH-GA in plasma or urine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:22728054 Plasma glutarylcarnitine and urinary 3-hydroxyglutaric acid were elevated in all patients best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutaric acid Glutaric acid PCCID:743 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic urine UBERON:0001088 PubMed:21431622 This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaric acid/PCCID:743 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:22728054 Plasma glutarylcarnitine and urinary 3-hydroxyglutaric acid were elevated in all patients assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:16602100 Glutaric acidemia type 1 produces carnitine deficiency and increases levels of C5 dicarboxylic (glutaryl) carnitine in urine and plasma;|This disorder can be identified by increased glutaryl (C5DC) carnitine on newborn screening.;|With urine organic acid analysis, 3-OH-glutaric acid is the diagnostic metabolite assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:21431622 This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:36221165 GCDH deficiency results in accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid and glutarylcarnitine (C5DC) which can be detected in body fluids (urine, plasma, cerebrospinal fluid [CSF]) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:31536184 GA-1 is suspected during the diagnostic evaluation of a newborn with an elevated concentration of 3-OH-GA in plasma or urine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:8552212 The biochemical picture is characterized by the large amounts of glutaric, 3-hydroxyglutaric and glutaconic acids in the urine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6168-1 Increased glutarylcarnitine Glutaryl (C5DC) carnitine PCCID:71317118 metabolite Glutaric acidemia type 1 OMIM:231670 diagnostic plasma UBERON:0001969 PubMed:25256449 Urine organic acid analysis usually shows increased levels of glutaric acid (GA), 3-hydroxyglutaric acid (3OHGA), glutaryl-CoA, glutarylcarnitine, and glutaconic acids, although glutaric acid and dicarboxylic carnitines can be completely normal in some patients. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite glutaryl (C5DC) carnitine/PCCID:71317118 200350 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:16602101 isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patients metabolic condition. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:22004070 The pathognomonic metabolite, isovalerylglycine, can be detected on urine organic acid analysis;|isovalerylcarnitine can be detected in dried blood spots or plasma on tandem mass spectrometry assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:6549017 Gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine (IVC), a new metabolite specific for this disorder. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:33072933 In urine, the elevation of IVG confirms the metabolic diagnosis of IVA;|Isovaleryl (C5)-carnitine is the marker metabolite used for newborn screening in Isovaleric Acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:1777996 In this study, we determined the levels of both IVG and IVC in amniotic fluids obtained at 32 gestational weeks by FAB-MS/MS, and demonstrated that this technique is a practical and accurate method for the prenatal diagnosis of isovaleric acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic plasma UBERON:0001969 PubMed:7659686 The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:16602101 isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patients metabolic condition. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:22004070 The pathognomonic metabolite, isovalerylglycine, can be detected on urine organic acid analysis;|isovalerylcarnitine can be detected in dried blood spots or plasma on tandem mass spectrometry assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:6549017 Gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine (IVC), a new metabolite specific for this disorder. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:33072933 In urine, the elevation of IVG confirms the metabolic diagnosis of IVA;|Isovaleryl (C5)-carnitine is the marker metabolite used for newborn screening in Isovaleric Acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:1777996 In this study, we determined the levels of both IVG and IVC in amniotic fluids obtained at 32 gestational weeks by FAB-MS/MS, and demonstrated that this technique is a practical and accurate method for the prenatal diagnosis of isovaleric acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylcarnitine Isovalerylcarnitine PCCID:169235 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:7659686 The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylcarnitine/PCCID:169235 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:16602101 isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patients metabolic condition. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:7659686 The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:33072933 In urine, the elevation of IVG confirms the metabolic diagnosis of IVA;|Isovaleryl (C5)-carnitine is the marker metabolite used for newborn screening in Isovaleric Acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:22004070 The pathognomonic metabolite, isovalerylglycine, can be detected on urine organic acid analysis;|isovalerylcarnitine can be detected in dried blood spots or plasma on tandem mass spectrometry assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:1777996 In this study, we determined the levels of both IVG and IVC in amniotic fluids obtained at 32 gestational weeks by FAB-MS/MS, and demonstrated that this technique is a practical and accurate method for the prenatal diagnosis of isovaleric acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic urine UBERON:0001088 PubMed:6549017 Gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine (IVC), a new metabolite specific for this disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:16602101 isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patients metabolic condition. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:7659686 The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:33072933 In urine, the elevation of IVG confirms the metabolic diagnosis of IVA;|Isovaleryl (C5)-carnitine is the marker metabolite used for newborn screening in Isovaleric Acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:22004070 The pathognomonic metabolite, isovalerylglycine, can be detected on urine organic acid analysis;|isovalerylcarnitine can be detected in dried blood spots or plasma on tandem mass spectrometry assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:1777996 In this study, we determined the levels of both IVG and IVC in amniotic fluids obtained at 32 gestational weeks by FAB-MS/MS, and demonstrated that this technique is a practical and accurate method for the prenatal diagnosis of isovaleric acidemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6169-1 Increased Isovalerylglycine Isovalerylglycine PCCID:546304 metabolite isovaleric acidemia DOID:14753 diagnostic amniotic fluid UBERON:0000173 PubMed:6549017 Gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine (IVC), a new metabolite specific for this disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite isovalerylglycine/PCCID:546304 200351 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic plasma UBERON:0001969 PubMed:35038174 Methylmalonic acid, another primary metabolite, is a potential biomarker, but only in patients with MMA. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic plasma UBERON:0001969 PubMed:28070528 A definitive diagnosis of the disorder is based on urine organic acid analysis using gas chromatography/mass spectrometry (GC/MS). Organic acids can be measured using any body fluid, but urine is the most efficient for determining the type of disorder. The determination of organic acids and glycine conjugates in urine is key for the diagnosis and follow-up of MMA. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic plasma UBERON:0001969 PubMed:36582607 methylmalonic acid excretion significantly increased in cblC-MMA patients assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic urine UBERON:0001088 PubMed:35038174 Methylmalonic acid, another primary metabolite, is a potential biomarker, but only in patients with MMA. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic urine UBERON:0001088 PubMed:28070528 A definitive diagnosis of the disorder is based on urine organic acid analysis using gas chromatography/mass spectrometry (GC/MS). Organic acids can be measured using any body fluid, but urine is the most efficient for determining the type of disorder. The determination of organic acids and glycine conjugates in urine is key for the diagnosis and follow-up of MMA. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6170-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (Cobalamin disorders) OMIM:251110 diagnostic urine UBERON:0001088 PubMed:36582607 methylmalonic acid excretion significantly increased in cblC-MMA patients assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200352 AN6171-1 Increased 2-Methylcitric acid 2-Methylcitric acid PCCID:439681 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:37243446 Elevated plasma concentration of propionylcarnitine(C3) form the basis of newborn screening for MMA.;|This makes them attractive candidates for drug development targeting both disorders andsimultaneous determination of 2-methylcitric acid (2MCA), 3-OH propionic acid, have been proposed as bio-markers for diagnostic and monitoring purposes inboth disorders of propionyl-CoA metabolism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-Methylcitric acid/PCCID:439681 200353 AN6171-1 Increased 2-Methylcitric acid 2-Methylcitric acid PCCID:439681 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:30712249 In all of 25 patients, the diagnosis of MMA was confirmed, due to significantly elevated methylmalonic acid levels and methylcitric acids in the urine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-Methylcitric acid/PCCID:439681 200353 AN6171-1 Increased 2-Methylcitric acid 2-Methylcitric acid PCCID:439681 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:25750861 The best way to accomplish the diagnosis is to study urinary nonvolatile organic acid patterns by using gas chromatography mass spectrometry. MMA level in urine was measured by GCMS best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-Methylcitric acid/PCCID:439681 200353 AN6171-1 Increased 2-Methylcitric acid 2-Methylcitric acid PCCID:439681 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:26454439 The median urine level of methylmalonate was 598.96 (18.50-2976.25) mmol/mol creatinine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-Methylcitric acid/PCCID:439681 200353 AN6171-1 Increased 2-Methylcitric acid 2-Methylcitric acid PCCID:439681 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:31622506 The patients in our group were typically diagnosed based on clinical symptoms and biochemical examinations, including elevated blood propionylcarnitine and urinary methylmalonic acid levels. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-Methylcitric acid/PCCID:439681 200353 AN6171-1 Increased 3-OH Propionic acid 3-OH Propionic acid PCCID:68152 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:37243446 Elevated plasma concentration of propionylcarnitine(C3) form the basis of newborn screening for MMA.;|This makes them attractive candidates for drug development targeting both disorders andsimultaneous determination of 2-methylcitric acid (2MCA), 3-OH propionic acid, have been proposed as bio-markers for diagnostic and monitoring purposes inboth disorders of propionyl-CoA metabolism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-OH Propionic acid/PCCID:68152 200353 AN6171-1 Increased 3-OH Propionic acid 3-OH Propionic acid PCCID:68152 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:30712249 In all of 25 patients, the diagnosis of MMA was confirmed, due to significantly elevated methylmalonic acid levels and methylcitric acids in the urine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-OH Propionic acid/PCCID:68152 200353 AN6171-1 Increased 3-OH Propionic acid 3-OH Propionic acid PCCID:68152 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:25750861 The best way to accomplish the diagnosis is to study urinary nonvolatile organic acid patterns by using gas chromatography mass spectrometry. MMA level in urine was measured by GCMS best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-OH Propionic acid/PCCID:68152 200353 AN6171-1 Increased 3-OH Propionic acid 3-OH Propionic acid PCCID:68152 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:26454439 The median urine level of methylmalonate was 598.96 (18.50-2976.25) mmol/mol creatinine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-OH Propionic acid/PCCID:68152 200353 AN6171-1 Increased 3-OH Propionic acid 3-OH Propionic acid PCCID:68152 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:31622506 The patients in our group were typically diagnosed based on clinical symptoms and biochemical examinations, including elevated blood propionylcarnitine and urinary methylmalonic acid levels. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-OH Propionic acid/PCCID:68152 200353 AN6171-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring urine UBERON:0001088 PubMed:25750861 The best way to accomplish the diagnosis is to study urinary nonvolatile organic acid patterns by using gas chromatography mass spectrometry. MMA level in urine was measured by GCMS assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200353 AN6171-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring urine UBERON:0001088 PubMed:26454439 The median urine level of methylmalonate was 598.96 (18.50-2976.25) mmol/mol creatinine assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200353 AN6171-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring urine UBERON:0001088 PubMed:31622506 The patients in our group were typically diagnosed based on clinical symptoms and biochemical examinations, including elevated blood propionylcarnitine and urinary methylmalonic acid levels. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200353 AN6171-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring urine UBERON:0001088 PubMed:30712249 In all of 25 patients, the diagnosis of MMA was confirmed, due to significantly elevated methylmalonic acid levels and methylcitric acids in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200353 AN6171-1 Increased Methylmalonic Acid Methylmalonic Acid PCCID:487 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring urine UBERON:0001088 PubMed:37243446 Elevated plasma concentration of propionylcarnitine(C3) form the basis of newborn screening for MMA.;|This makes them attractive candidates for drug development targeting both disorders andsimultaneous determination of 2-methylcitric acid (2MCA), 3-OH propionic acid, have been proposed as bio-markers for diagnostic and monitoring purposes inboth disorders of propionyl-CoA metabolism. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite methylmalonic Acid/PCCID:487 200353 AN6171-1 Increased Propionylcarnitine (C3) Propionylcarnitine (C3) PCCID:107738 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:37243446 Elevated plasma concentration of propionylcarnitine(C3) form the basis of newborn screening for MMA.;|This makes them attractive candidates for drug development targeting both disorders andsimultaneous determination of 2-methylcitric acid (2MCA), 3-OH propionic acid, have been proposed as bio-markers for diagnostic and monitoring purposes inboth disorders of propionyl-CoA metabolism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite propionylcarnitine (C3)/PCCID:107738 200353 AN6171-1 Increased Propionylcarnitine (C3) Propionylcarnitine (C3) PCCID:107738 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:30712249 In all of 25 patients, the diagnosis of MMA was confirmed, due to significantly elevated methylmalonic acid levels and methylcitric acids in the urine. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite propionylcarnitine (C3)/PCCID:107738 200353 AN6171-1 Increased Propionylcarnitine (C3) Propionylcarnitine (C3) PCCID:107738 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:25750861 The best way to accomplish the diagnosis is to study urinary nonvolatile organic acid patterns by using gas chromatography mass spectrometry. MMA level in urine was measured by GCMS best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite propionylcarnitine (C3)/PCCID:107738 200353 AN6171-1 Increased Propionylcarnitine (C3) Propionylcarnitine (C3) PCCID:107738 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:26454439 The median urine level of methylmalonate was 598.96 (18.50-2976.25) mmol/mol creatinine best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite propionylcarnitine (C3)/PCCID:107738 200353 AN6171-1 Increased Propionylcarnitine (C3) Propionylcarnitine (C3) PCCID:107738 metabolite Methylmalonic Acidemia (methylmalonyl-CoA mutase) OMIM:251000 monitoring plasma UBERON:0001969 PubMed:31622506 The patients in our group were typically diagnosed based on clinical symptoms and biochemical examinations, including elevated blood propionylcarnitine and urinary methylmalonic acid levels. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite propionylcarnitine (C3)/PCCID:107738 200353 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:33595124 sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, can be optimised by 2-methylcitrate.;|sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, obtained during the first days of life, can be optimised by measuring C3/C2 ratio, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27216769 By including 2-methylcitric acid in the screening algorithm, the positive predictive value of our primary and secondary screening targets improved from 8.7 to 64.3%. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:30217751 Quantification of methylcitrate provides important diagnostic clues for propionic acidemia assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:31451751 This is the first report to describe the potential role of MCA and MCA/CA in dried blood spots as diagnostic and monitoring biomarkers for inherited disorders of propionyl-CoA metabolism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:17510301 Our methodology is capable of monitoring and quantifying MMA and 3OH-PA during newborn screening as a 2nd-tier test. It can follow up on and diagnose PA and methylmalonic acidurias. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27900673 C3 is not sensitive or specific, the diagnostic sensitivity is improved using acylcarnitine ratios (increased ratio of C3 to C2). best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:32681732 Primary metabolites include propionyl-carnitine (C3), methylcitric acid (MCA), 3-hydroxypropionic acid;|Significant differences between the two diseases were found for the C3/C2 ratio. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 2-methylcitrate PCCID:439681 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:35038174 Elevated 3-hydroxypropionic acid in urine, combined with the presence of 2-MCA in urine, is diagnostic of PA;|In an affected newborn, acetylcarnitine (C2) is usually normal, and thus the C3/C2 ratio (a proxy for propionyl-CoA/acetyl-CoA) can be elevated up to 20-fold best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 2-methylcitrate/PCCID:439681 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:35038174 Elevated 3-hydroxypropionic acid in urine, combined with the presence of 2-MCA in urine, is diagnostic of PA;|In an affected newborn, acetylcarnitine (C2) is usually normal, and thus the C3/C2 ratio (a proxy for propionyl-CoA/acetyl-CoA) can be elevated up to 20-fold assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:32681732 Primary metabolites include propionyl-carnitine (C3), methylcitric acid (MCA), 3-hydroxypropionic acid;|Significant differences between the two diseases were found for the C3/C2 ratio. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:17510301 Our methodology is capable of monitoring and quantifying MMA and 3OH-PA during newborn screening as a 2nd-tier test. It can follow up on and diagnose PA and methylmalonic acidurias. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:30217751 Quantification of methylcitrate provides important diagnostic clues for propionic acidemia best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:27216769 By including 2-methylcitric acid in the screening algorithm, the positive predictive value of our primary and secondary screening targets improved from 8.7 to 64.3%. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:31451751 This is the first report to describe the potential role of MCA and MCA/CA in dried blood spots as diagnostic and monitoring biomarkers for inherited disorders of propionyl-CoA metabolism. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:27900673 C3 is not sensitive or specific, the diagnostic sensitivity is improved using acylcarnitine ratios (increased ratio of C3 to C2). best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased 2-methylcitrate 3-hydroxypropionate PCCID:5459847 metabolite propionic acidemia DOID:14701 diagnostic urine UBERON:0001088 PubMed:33595124 sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, can be optimised by 2-methylcitrate.;|sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, obtained during the first days of life, can be optimised by measuring C3/C2 ratio, best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 3-hydroxypropionate/PCCID:5459847 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:33595124 sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, can be optimised by 2-methylcitrate.;|sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, obtained during the first days of life, can be optimised by measuring C3/C2 ratio, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:35038174 Elevated 3-hydroxypropionic acid in urine, combined with the presence of 2-MCA in urine, is diagnostic of PA;|In an affected newborn, acetylcarnitine (C2) is usually normal, and thus the C3/C2 ratio (a proxy for propionyl-CoA/acetyl-CoA) can be elevated up to 20-fold assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:32681732 Primary metabolites include propionyl-carnitine (C3), methylcitric acid (MCA), 3-hydroxypropionic acid;|Significant differences between the two diseases were found for the C3/C2 ratio. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27900673 C3 is not sensitive or specific, the diagnostic sensitivity is improved using acylcarnitine ratios (increased ratio of C3 to C2). assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:17510301 Our methodology is capable of monitoring and quantifying MMA and 3OH-PA during newborn screening as a 2nd-tier test. It can follow up on and diagnose PA and methylmalonic acidurias. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:30217751 Quantification of methylcitrate provides important diagnostic clues for propionic acidemia best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27216769 By including 2-methylcitric acid in the screening algorithm, the positive predictive value of our primary and secondary screening targets improved from 8.7 to 64.3%. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C2 acylcarnitine PCCID:7045767 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:31451751 This is the first report to describe the potential role of MCA and MCA/CA in dried blood spots as diagnostic and monitoring biomarkers for inherited disorders of propionyl-CoA metabolism. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c2 acylcarnitine/PCCID:7045767 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:33595124 sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, can be optimised by 2-methylcitrate.;|sensitivity and specificity for diagnosis of MMA and PA from dried blood spots, obtained during the first days of life, can be optimised by measuring C3/C2 ratio, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:35038174 Elevated 3-hydroxypropionic acid in urine, combined with the presence of 2-MCA in urine, is diagnostic of PA;|In an affected newborn, acetylcarnitine (C2) is usually normal, and thus the C3/C2 ratio (a proxy for propionyl-CoA/acetyl-CoA) can be elevated up to 20-fold assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:32681732 Primary metabolites include propionyl-carnitine (C3), methylcitric acid (MCA), 3-hydroxypropionic acid;|Significant differences between the two diseases were found for the C3/C2 ratio. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27900673 C3 is not sensitive or specific, the diagnostic sensitivity is improved using acylcarnitine ratios (increased ratio of C3 to C2). assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:17510301 Our methodology is capable of monitoring and quantifying MMA and 3OH-PA during newborn screening as a 2nd-tier test. It can follow up on and diagnose PA and methylmalonic acidurias. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:30217751 Quantification of methylcitrate provides important diagnostic clues for propionic acidemia best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:27216769 By including 2-methylcitric acid in the screening algorithm, the positive predictive value of our primary and secondary screening targets improved from 8.7 to 64.3%. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6172-1 Increased C3/C2 acylcarnitine ratio C3 acylcarnitine PCCID:107738 metabolite propionic acidemia DOID:14701 diagnostic blood UBERON:0000178 PubMed:31451751 This is the first report to describe the potential role of MCA and MCA/CA in dried blood spots as diagnostic and monitoring biomarkers for inherited disorders of propionyl-CoA metabolism. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite c3 acylcarnitine/PCCID:107738 200354 AN6173-1 Increased Hydroxyacylcarnitine (C18:1-OH) Hydroxyacylcarnitine (C18:1-OH) PCCID:71464503 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:30029694 elevated concentartions of C18:1-OH (0.46 _mol/l; cut-off <_0.04 _mol/l);|elevated concentrations of C16-OH (1.62 _mol/l; cut-off <_0.05 _mol/l) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite hydroxyacylcarnitine (C18:1-OH)/PCCID:71464503 200355 AN6173-1 Increased Hydroxyacylcarnitine (C18:1-OH) Hydroxyacylcarnitine (C18:1-OH) PCCID:71464503 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:34768374 Elevations in C14:1 and C16:1 acylcarnitines, and C16-OH and C18:1-OH hydroxyacylcarnitines, have been observed best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite hydroxyacylcarnitine (C18:1-OH)/PCCID:71464503 200355 AN6173-1 Increased hydroxypalmitoylcarnitine (C16-OH) Hydroxyacylcarnitine (C18:1-OH) PCCID:71464503 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:34768374 Elevations in C14:1 and C16:1 acylcarnitines, and C16-OH and C18:1-OH hydroxyacylcarnitines, have been observed assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite hydroxyacylcarnitine (C18:1-OH)/PCCID:71464503 200355 AN6173-1 Increased hydroxypalmitoylcarnitine (C16-OH) Hydroxyacylcarnitine (C18:1-OH) PCCID:71464503 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:30029694 elevated concentartions of C18:1-OH (0.46 _mol/l; cut-off <_0.04 _mol/l);|elevated concentrations of C16-OH (1.62 _mol/l; cut-off <_0.05 _mol/l) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite hydroxyacylcarnitine (C18:1-OH)/PCCID:71464503 200355 AN6173-1 Increased hydroxypalmitoylcarnitine (C16-OH) Hydroxypalmitoylcarnitine (C16-OH) PCCID:126456228 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:30029694 elevated concentartions of C18:1-OH (0.46 _mol/l; cut-off <_0.04 _mol/l);|elevated concentrations of C16-OH (1.62 _mol/l; cut-off <_0.05 _mol/l) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite hydroxypalmitoylcarnitine (C16-OH)/PCCID:126456228 200355 AN6173-1 Increased hydroxypalmitoylcarnitine (C16-OH) Hydroxypalmitoylcarnitine (C16-OH) PCCID:126456228 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:34768374 Elevations in C14:1 and C16:1 acylcarnitines, and C16-OH and C18:1-OH hydroxyacylcarnitines, have been observed best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite hydroxypalmitoylcarnitine (C16-OH)/PCCID:126456228 200355 AN6173-1 Increased Hydroxyacylcarnitine (C18:1-OH) Hydroxypalmitoylcarnitine (C16-OH) PCCID:126456228 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:34768374 Elevations in C14:1 and C16:1 acylcarnitines, and C16-OH and C18:1-OH hydroxyacylcarnitines, have been observed assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite hydroxypalmitoylcarnitine (C16-OH)/PCCID:126456228 200355 AN6173-1 Increased Hydroxyacylcarnitine (C18:1-OH) Hydroxypalmitoylcarnitine (C16-OH) PCCID:126456228 metabolite very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 diagnostic plasma UBERON:0001969 PubMed:30029694 elevated concentartions of C18:1-OH (0.46 _mol/l; cut-off <_0.04 _mol/l);|elevated concentrations of C16-OH (1.62 _mol/l; cut-off <_0.05 _mol/l) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite hydroxypalmitoylcarnitine (C16-OH)/PCCID:126456228 200355 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:7682674 Elevated concentrations of argininosuccinic acid and its anhydrides in cerebrospinal fluid, pseudouridine, and uridine, and elevated concentrations of uracil and orotic acid in urine are biomarkers for argininosuccinic aciduria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:21329179 In patients with argininosuccinic aciduria, the plasma citrulline is usually elevated to levels of 150 to 250 _mol/L.;|The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:7164925 Argininosuccinic aciduria is detected by over-excretion of argininosuccinic acid and negligible enzyme activity in erythrocyte lysates. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:5365174 Accumulation of ASA and, in some cases, of its immediate precursor citrulline occurs in the blood, the cerebrospinal fluid and especially in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:32931185 Citrulline is the most significant marker to detect argininosuccinic aciduria, with a concentration of 22 _ mol/L in healthy infants and 220 mol/L in infants suffering from the disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic csf UBERON:0001359 PubMed:652408 Argininosuccinic aciduria is autosomal recessive and has a reduced enzyme activity, with elevated plasma citrulline and glutamine levels, best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:7682674 Elevated concentrations of argininosuccinic acid and its anhydrides in cerebrospinal fluid, pseudouridine, and uridine, and elevated concentrations of uracil and orotic acid in urine are biomarkers for argininosuccinic aciduria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:21329179 In patients with argininosuccinic aciduria, the plasma citrulline is usually elevated to levels of 150 to 250 _mol/L.;|The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:7164925 Argininosuccinic aciduria is detected by over-excretion of argininosuccinic acid and negligible enzyme activity in erythrocyte lysates. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:5365174 Accumulation of ASA and, in some cases, of its immediate precursor citrulline occurs in the blood, the cerebrospinal fluid and especially in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:32931185 Citrulline is the most significant marker to detect argininosuccinic aciduria, with a concentration of 22 _ mol/L in healthy infants and 220 mol/L in infants suffering from the disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:652408 Argininosuccinic aciduria is autosomal recessive and has a reduced enzyme activity, with elevated plasma citrulline and glutamine levels, best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:7682674 Elevated concentrations of argininosuccinic acid and its anhydrides in cerebrospinal fluid, pseudouridine, and uridine, and elevated concentrations of uracil and orotic acid in urine are biomarkers for argininosuccinic aciduria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:21329179 In patients with argininosuccinic aciduria, the plasma citrulline is usually elevated to levels of 150 to 250 _mol/L.;|The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:7164925 Argininosuccinic aciduria is detected by over-excretion of argininosuccinic acid and negligible enzyme activity in erythrocyte lysates. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:5365174 Accumulation of ASA and, in some cases, of its immediate precursor citrulline occurs in the blood, the cerebrospinal fluid and especially in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:32931185 Citrulline is the most significant marker to detect argininosuccinic aciduria, with a concentration of 22 _ mol/L in healthy infants and 220 mol/L in infants suffering from the disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased argininosuccinic acid Argininosuccinic acid PCCID:16950 metabolite argininosuccinic aciduria DOID:14755 diagnostic urine UBERON:0001088 PubMed:652408 Argininosuccinic aciduria is autosomal recessive and has a reduced enzyme activity, with elevated plasma citrulline and glutamine levels, best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite argininosuccinic acid/PCCID:16950 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:5365174 Accumulation of ASA and, in some cases, of its immediate precursor citrulline occurs in the blood, the cerebrospinal fluid and especially in the urine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:652408 Argininosuccinic aciduria is autosomal recessive and has a reduced enzyme activity, with elevated plasma citrulline and glutamine levels, assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:21329179 In patients with argininosuccinic aciduria, the plasma citrulline is usually elevated to levels of 150 to 250 _mol/L.;|The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:32931185 Citrulline is the most significant marker to detect argininosuccinic aciduria, with a concentration of 22 _ mol/L in healthy infants and 220 mol/L in infants suffering from the disorder. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:7682674 Elevated concentrations of argininosuccinic acid and its anhydrides in cerebrospinal fluid, pseudouridine, and uridine, and elevated concentrations of uracil and orotic acid in urine are biomarkers for argininosuccinic aciduria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6174-1 Increased Citrulline Citrulline PCCID:9750 metabolite argininosuccinic aciduria DOID:14755 diagnostic plasma UBERON:0001969 PubMed:7164925 Argininosuccinic aciduria is detected by over-excretion of argininosuccinic acid and negligible enzyme activity in erythrocyte lysates. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite citrulline/PCCID:9750 200356 AN6175-1 Increased Phenylacetic acid Phenylacetic acid PCCID:999 metabolite phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:26410738 The largest value of AUC (0.987) with high specificity (0.936) and sensitivity (1.000) was obtained by the ROC curve of phenylacetic acid at its cutoff value (17.244 mmol/mol creatinine) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite phenylacetic acid/PCCID:999 200357 AN6175-1 Increased Phenylacetic acid Phenylacetic acid PCCID:999 metabolite phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:12101068 The enzyme defect leads to a specific pattern of plasma amino acids with increased Phe at normal or decreased Tyr best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite phenylacetic acid/PCCID:999 200357 AN6175-1 Increased Phenylacetic acid Phenylacetic acid PCCID:999 metabolite phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:12401368 The present method for the quantitative analysis of Phe and Tyr in neonatal blood sample is simple, rapid and sensitive, which makes it suitable for simultaneous screening for PKU and tyrosinemia. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite phenylacetic acid/PCCID:999 200357 AN6175-1 Increased Phenylacetic acid Phenylacetic acid PCCID:999 metabolite phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:31608347 Although plasma Phe is commonly used for treatment monitoring of PKU patients, urine offers a non-invasive biofluid better suited for routine assessment of several disease-related signatures of aberrant Phe catabolism caused by poor dietary protein restriction, as well as nutritional inadequacy notably prevalent among older PKU patients. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite phenylacetic acid/PCCID:999 200357 AN6175-1 Increased Phenylacetic acid Phenylacetic acid PCCID:999 metabolite phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:17591452 Blood phenylalanine (Phe) levels provide a practical and reliable method for the diagnosis and monitoring of metabolic status in patients with phenylketonuria (PKU) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite phenylacetic acid/PCCID:999 200357 AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic plasma UBERON:0001969 PubMed:17591452 Blood phenylalanine (Phe) levels provide a practical and reliable method for the diagnosis and monitoring of metabolic status in patients with phenylketonuria (PKU) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic plasma UBERON:0001969 PubMed:12101068 The enzyme defect leads to a specific pattern of plasma amino acids with increased Phe at normal or decreased Tyr assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic plasma UBERON:0001969 PubMed:12401368 The present method for the quantitative analysis of Phe and Tyr in neonatal blood sample is simple, rapid and sensitive, which makes it suitable for simultaneous screening for PKU and tyrosinemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic plasma UBERON:0001969 PubMed:31608347 Although plasma Phe is commonly used for treatment monitoring of PKU patients, urine offers a non-invasive biofluid better suited for routine assessment of several disease-related signatures of aberrant Phe catabolism caused by poor dietary protein restriction, as well as nutritional inadequacy notably prevalent among older PKU patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic plasma UBERON:0001969 PubMed:26410738 The largest value of AUC (0.987) with high specificity (0.936) and sensitivity (1.000) was obtained by the ROC curve of phenylacetic acid at its cutoff value (17.244 mmol/mol creatinine) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:17591452 Blood phenylalanine (Phe) levels provide a practical and reliable method for the diagnosis and monitoring of metabolic status in patients with phenylketonuria (PKU) assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:12101068 The enzyme defect leads to a specific pattern of plasma amino acids with increased Phe at normal or decreased Tyr assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:12401368 The present method for the quantitative analysis of Phe and Tyr in neonatal blood sample is simple, rapid and sensitive, which makes it suitable for simultaneous screening for PKU and tyrosinemia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:31608347 Although plasma Phe is commonly used for treatment monitoring of PKU patients, urine offers a non-invasive biofluid better suited for routine assessment of several disease-related signatures of aberrant Phe catabolism caused by poor dietary protein restriction, as well as nutritional inadequacy notably prevalent among older PKU patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6175-1 Increased phenylalanine Phenylalanine PCCID:6140 amino acid phenylketonuria DOID:9281 diagnostic urine UBERON:0001088 PubMed:26410738 The largest value of AUC (0.987) with high specificity (0.936) and sensitivity (1.000) was obtained by the ROC curve of phenylacetic acid at its cutoff value (17.244 mmol/mol creatinine) best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of amino acid phenylalanine/PCCID:6140 200357 check_entity_type AN6176-1 Increased homocysteine Homocysteine PCCID:91552 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:20142522 Screening for this disorder is typically, hyperhomocysteinemia, hypermethioninemia, and hypocysteinemia, and the urinary excretion of methionine, homocysteine, and its oxidized form (homocystine) is elevated. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid homocysteine/PCCID:91552 200358 check_entity_type AN6176-1 Increased homocysteine Homocysteine PCCID:91552 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:29279830 Metabolic screening revealed elevated concentrations of serum homocysteine and methionine and a normal serum concentration of vitamin B12. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid homocysteine/PCCID:91552 200358 check_entity_type AN6176-1 Increased homocysteine Homocysteine PCCID:91552 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:10075100 There was a very abnormal plasma amino-acid pattern with severe hyperhomocysteinemia and hypermethioninemia, suggestive of classical homocystinuria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid homocysteine/PCCID:91552 200358 check_entity_type AN6176-1 Increased homocysteine Homocysteine PCCID:91552 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:5948395 Homocystinuria was diagnosed in a newborn infant by detection of homocystine in urine on the fourth day of life, and by the demonstration of a marked elevation of serum methionine concentration on the fifth day best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of amino acid homocysteine/PCCID:91552 200358 check_entity_type AN6176-1 Increased methionine Methionine PCCID:6137 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:5948395 Homocystinuria was diagnosed in a newborn infant by detection of homocystine in urine on the fourth day of life, and by the demonstration of a marked elevation of serum methionine concentration on the fifth day assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid methionine/PCCID:6137 200358 check_entity_type AN6176-1 Increased methionine Methionine PCCID:6137 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:10075100 There was a very abnormal plasma amino-acid pattern with severe hyperhomocysteinemia and hypermethioninemia, suggestive of classical homocystinuria. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid methionine/PCCID:6137 200358 check_entity_type AN6176-1 Increased methionine Methionine PCCID:6137 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:29279830 Metabolic screening revealed elevated concentrations of serum homocysteine and methionine and a normal serum concentration of vitamin B12. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid methionine/PCCID:6137 200358 check_entity_type AN6176-1 Increased methionine Methionine PCCID:6137 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:20142522 Screening for this disorder is typically, hyperhomocysteinemia, hypermethioninemia, and hypocysteinemia, and the urinary excretion of methionine, homocysteine, and its oxidized form (homocystine) is elevated. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid methionine/PCCID:6137 200358 check_entity_type AN6176-1 Increased homocysteine Total homocysteine PCCID:91552 metabolite homocystinuria DOID:9263 diagnostic urine UBERON:0001088 PubMed:5948395 Homocystinuria was diagnosed in a newborn infant by detection of homocystine in urine on the fourth day of life, and by the demonstration of a marked elevation of serum methionine concentration on the fifth day assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite total homocysteine/PCCID:91552 200358 AN6176-1 Increased homocysteine Total homocysteine PCCID:91552 metabolite homocystinuria DOID:9263 diagnostic urine UBERON:0001088 PubMed:20142522 Screening for this disorder is typically, hyperhomocysteinemia, hypermethioninemia, and hypocysteinemia, and the urinary excretion of methionine, homocysteine, and its oxidized form (homocystine) is elevated. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite total homocysteine/PCCID:91552 200358 AN6176-1 Increased homocysteine Total homocysteine PCCID:91552 metabolite homocystinuria DOID:9263 diagnostic urine UBERON:0001088 PubMed:10075100 There was a very abnormal plasma amino-acid pattern with severe hyperhomocysteinemia and hypermethioninemia, suggestive of classical homocystinuria. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite total homocysteine/PCCID:91552 200358 AN6176-1 Increased homocysteine Total homocysteine PCCID:91552 metabolite homocystinuria DOID:9263 diagnostic urine UBERON:0001088 PubMed:29279830 Metabolic screening revealed elevated concentrations of serum homocysteine and methionine and a normal serum concentration of vitamin B12. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite total homocysteine/PCCID:91552 200358 AN6177-1 Increased alloisoleucine Alloisoleucine PCCID:99288 metabolite maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:28919799 Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting in the production of the pathognomonic disease marker, alloisoleucine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite alloisoleucine/PCCID:99288 200359 AN6177-1 Increased alloisoleucine Alloisoleucine PCCID:99288 metabolite maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:10508118 The present findings indicate that plasma L-alloisoleucine above the cutoff value of 5 mmol/L is the most specific and most sensitive diagnostic marker for all forms of MSUD. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite alloisoleucine/PCCID:99288 200359 AN6177-1 Increased alloisoleucine Alloisoleucine PCCID:99288 metabolite maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:18178665 Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS).;|d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite alloisoleucine/PCCID:99288 200359 AN6177-1 Increased alloisoleucine Alloisoleucine PCCID:99288 metabolite maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 DOI:10.3390/ijns2020002 A sensitive and rapid second-tier UPLC-MS/MS method to determine branched-chain amino acids from the initial extraction of the screening sample and markedly reduces the false-positive rate and the associated anxiety and costs best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite alloisoleucine/PCCID:99288 200359 AN6177-1 Increased branched chain amino acids Branched chain amino acids PCCID:9886134 amino acid maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:18178665 Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS).;|d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid branched chain amino acids/PCCID:9886134 200359 check_entity_type AN6177-1 Increased branched chain amino acids Branched chain amino acids PCCID:9886134 amino acid maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:28919799 Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting in the production of the pathognomonic disease marker, alloisoleucine. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid branched chain amino acids/PCCID:9886134 200359 check_entity_type AN6177-1 Increased branched chain amino acids Branched chain amino acids PCCID:9886134 amino acid maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 DOI:10.3390/ijns2020002 A sensitive and rapid second-tier UPLC-MS/MS method to determine branched-chain amino acids from the initial extraction of the screening sample and markedly reduces the false-positive rate and the associated anxiety and costs assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of amino acid branched chain amino acids/PCCID:9886134 200359 check_entity_type AN6177-1 Increased branched chain amino acids Branched chain amino acids PCCID:9886134 amino acid maple syrup urine disease DOID:9269 diagnostic serum UBERON:0001977 PubMed:10508118 The present findings indicate that plasma L-alloisoleucine above the cutoff value of 5 mmol/L is the most specific and most sensitive diagnostic marker for all forms of MSUD. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of amino acid branched chain amino acids/PCCID:9886134 200359 check_entity_type AN6178-1 Increased succinylacetone Succinylacetone PCCID:5312 metabolite tyrosinemia type I DOID:0050726 diagnostic blood UBERON:0000178 PubMed:25066104 Succinylacetone (SUAC) is a pathognomonic marker of tyrosinemia type I and its detection by newborn screening programs improves its specificity. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite succinylacetone/PCCID:5312 200360 AN6178-1 Increased succinylacetone Succinylacetone PCCID:5312 metabolite tyrosinemia type I DOID:0050726 diagnostic blood UBERON:0000178 PubMed:23430836 Succinylacetone (SUAC) accumulation in blood and urine is a primary marker for tyrosinemia type I. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite succinylacetone/PCCID:5312 200360 AN6178-1 Increased succinylacetone Succinylacetone PCCID:5312 metabolite tyrosinemia type I DOID:0050726 diagnostic blood UBERON:0000178 PubMed:15498530 The reference range in the control group of unaffected newborn was determined to be <2 micromol/L, while SA in retrieved DBS from HT patients was significantly elevated, measuring 46.7, 36.5, and 23.2 micromol/L. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite succinylacetone/PCCID:5312 200360 AN6178-1 Increased succinylacetone Succinylacetone PCCID:5312 metabolite tyrosinemia type I DOID:0050726 diagnostic blood UBERON:0000178 PubMed:28274233 Sensitivity (29 cases in total) and specificity (34,403 controls in total) were 100% in the case control studies. Screening for Tyrosinemia type 1 using tandem mass spectrometry measurement of succinylacetone from dried blood spots appears to be promising. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite succinylacetone/PCCID:5312 200360 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:16551734 17-hydroxyprogesterone and 21-deoxycortisol levels are elevated in patients with congenital adrenal hyperplasia, suggesting their potential use as markers for diagnosis and monitoring. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:6609026 17-hydroxyprogesterone and 11-deoxycortisol are specific markers for congenital adrenal hyperplasia due to deficiencies of 21- and 11-hydroxylase activities, respectively. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:4372245 17-hydroxyprogesterone and 21-deoxycortisol levels are elevated in untreated congenital adrenal hyperplasia patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:29264476 An LC-MS/MS serum steroid profile, including 17-hydroxy-progesterone and 21-deoxycortisol, provides a reliable etiologic diagnosis of congenital adrenal hyperplasia. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:33117906 Recent studies have noted the utility of 21-deoxycortisol, in addition to 17OHP, as a diagnostic marker for 21OHD best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:31450227 Time to Replace 17OHP with 21-Deoxycortisol as the analyte of choice for 21OHD best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:34780778 21deoxycortisol is a key disease marker of 21OHD and can be used to improve the accuracy of newborn screening for this disorder. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:16551734 17-hydroxyprogesterone and 21-deoxycortisol levels are elevated in patients with congenital adrenal hyperplasia, suggesting their potential use as markers for diagnosis and monitoring. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:31450227 Time to Replace 17OHP with 21-Deoxycortisol as the analyte of choice for 21OHD assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:34780778 21deoxycortisol is a key disease marker of 21OHD and can be used to improve the accuracy of newborn screening for this disorder. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:33117906 Recent studies have noted the utility of 21-deoxycortisol, in addition to 17OHP, as a diagnostic marker for 21OHD assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:29264476 An LC-MS/MS serum steroid profile, including 17-hydroxy-progesterone and 21-deoxycortisol, provides a reliable etiologic diagnosis of congenital adrenal hyperplasia. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:4372245 17-hydroxyprogesterone and 21-deoxycortisol levels are elevated in untreated congenital adrenal hyperplasia patients. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6179-1 Increased 21-Deoxycortisol 21-Deoxycortisol PCCID:92827 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:6609026 17-hydroxyprogesterone and 11-deoxycortisol are specific markers for congenital adrenal hyperplasia due to deficiencies of 21- and 11-hydroxylase activities, respectively. best_biomarker_role;condition change_type:increased;aspect_type:level Increased level of metabolite 21-Deoxycortisol/PCCID:92827 200361 AN6180-1 Increased thyroid stimulating harmone Thyroid stimulating hormone PCSID:485716527 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:10447022 Other screening programs, for example in Japan, use a primary TSH test; some programs in the United States and Canada are switching to this screening strategy to screen central hypothyroidism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of protein thyroid stimulating hormone/PCSID:485716527 200362 AN6180-1 Increased thyroid stimulating harmone Thyroid stimulating hormone PCSID:485716527 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:37326450 Primary CH is characterized by low blood TH and elevated thyroid-stimulating hormone (TSH) concentrations. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of protein thyroid stimulating hormone/PCSID:485716527 200362 AN6180-1 Increased thyroid stimulating harmone Thyroid stimulating hormone PCSID:485716527 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:17220056 Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of protein thyroid stimulating hormone/PCSID:485716527 200362 AN6180-1 Increased thyroid stimulating harmone Thyroid stimulating hormone PCSID:485716527 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:20537182 The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of protein thyroid stimulating hormone/PCSID:485716527 200362 AN6180-1 Decreased thyroxine Thyroxine hormone PCCID:5819 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:10447022 Other screening programs, for example in Japan, use a primary TSH test; some programs in the United States and Canada are switching to this screening strategy to screen central hypothyroidism. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of protein thyroxine hormone/PCCID:5819 200362 AN6180-1 Decreased thyroxine Thyroxine hormone PCCID:5819 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:37326450 Primary CH is characterized by low blood TH and elevated thyroid-stimulating hormone (TSH) concentrations. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of protein thyroxine hormone/PCCID:5819 200362 AN6180-1 Decreased thyroxine Thyroxine hormone PCCID:5819 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:17220056 Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of protein thyroxine hormone/PCCID:5819 200362 AN6180-1 Decreased thyroxine Thyroxine hormone PCCID:5819 protein congenital hypothyroidism DOID:0050328 diagnostic blood UBERON:0000178 PubMed:20537182 The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of protein thyroxine hormone/PCCID:5819 200362 AN6181-1 Biotinidase activity Biotinidase PCSID:379981166 protein biotinidase deficiency DOID:856 diagnostic blood UBERON:0000178 PubMed:3944695 A simple colorimetric screening procedure can detect biotinidase deficiency in newborns,with excellent sensitivity and specificity. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:presence of;aspect_type:activity Presence of activity of protein biotinidase/PCSID:379981166 200363 AN6181-1 Biotinidase activity Biotinidase PCSID:379981166 protein biotinidase deficiency DOID:856 diagnostic blood UBERON:0000178 PubMed:6848914 Biotinidase activity was determined colorimetrically by measuring the liberation of p-aminobenzoate from biotin-p-aminobenzoate, an artificial substrate of biotinidase. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:presence of;aspect_type:activity Presence of activity of protein biotinidase/PCSID:379981166 200363 AN6181-1 Biotinidase activity Biotinidase PCSID:379981166 protein biotinidase deficiency DOID:856 diagnostic blood UBERON:0000178 PubMed:15060693 Confirmation of biotinidase activity in serum was obtained for babies suspected of having the deficiency and for their parents by a quantitative colorimetric assay using biotinyl-p-aminobenzoate as described previously assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:presence of;aspect_type:activity Presence of activity of protein biotinidase/PCSID:379981166 200363 AN6181-1 Biotinidase activity Biotinidase PCSID:379981166 protein biotinidase deficiency DOID:856 diagnostic blood UBERON:0000178 PubMed:6661819 Biotinidase activity in serum from normal individuals is comparable to that determined by the colorimetric assay, but the radioassay is approximately 100 times more sensitive. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:presence of;aspect_type:activity Presence of activity of protein biotinidase/PCSID:379981166 200363 AN6182-1 Increased sweat chloride Sweat chloride PCCID:312 chemical element cystic fibrosis DOID:1485 diagnostic sweat UBERON:0001089 PubMed:24660233 Sweat chloride is useful in multicenter trials as a biomarker of CFTR activity and to test the effect of CFTR potentiators. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of chemical element sweat chloride/PCCID:312 200364 AN6182-1 Increased sweat chloride Sweat chloride PCCID:312 chemical element cystic fibrosis DOID:1485 diagnostic sweat UBERON:0001089 PubMed:18823769 Early determination of cystic fibrosis by electrochemical chloride quantification in sweat. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of chemical element sweat chloride/PCCID:312 200364 AN6182-1 Increased sweat chloride Sweat chloride PCCID:312 chemical element cystic fibrosis DOID:1485 diagnostic sweat UBERON:0001089 PubMed:18728376 Standardized sweat chloride test can be a useful diagnostic tool for cystic fibrosis in Koreans, with all confirmed cases showing sweat chloride levels above 60 mmol/L. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of chemical element sweat chloride/PCCID:312 200364 AN6182-1 Increased sweat chloride Sweat chloride PCCID:312 chemical element cystic fibrosis DOID:1485 diagnostic sweat UBERON:0001089 PubMed:28576637 In screening positive babies, the diagnosis of CF must be confirmed by a sweat test demonstrating a sweat chloride concentration above 60mmol/L. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of chemical element sweat chloride/PCCID:312 200364 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 PubMed:15886040 Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 PubMed:22252961 Urinary Glc4 had high sensitivity (95%) and specificity (84%) as a diagnostic biomarker within this at-risk group and is a highly predictive biomarker of Pompe disease in infantile patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 DOI:10.1016/j.mgene.2018.05.064. A comparison with the until now best biomarkers for Pompe (Hex4 and Glc4 in urine) will be presented. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 PubMed:23756115 Glc4 urinary levels are found to be high in patients suffering from Pompe disease assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 DOI:10.1007/s11696-018-0623-3 increased levels of specific glucose tetrasaccharide _Glc(1___6)_Glc(1___4)_Glc(1___4)Glc (Glc4), which was approved as a non-invasive biomarker of glycogen accumulation in the muscles of Pompe patients. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6183-1 Increased Glc4 Glc4 PCCID:5793 glycan glycogen storage disease II DOID:2752 diagnostic urine UBERON:0001088 PubMed:32069240 urinary excretion of the tetrasaccharide 6-_-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of glycan glc4/PCCID:5793 200365 AN6184-1 Decreased Creatine Creatine PCCID:586 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:18652076 GAA is the main intermediary product in creatine biosynthesis. In GAMT deficiency, GAA accumulates about 200-fold in CSF.;|The biochemical hallmarks of these disorders include cerebral creatine deficiency and specific disturbances in metabolites of creatine metabolism in body fluids assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of metabolite creatine/PCCID:586 200366 AN6184-1 Decreased Creatine Creatine PCCID:586 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:15234333 Creatine in serum was in the low normal range, and creatine excretion during 24 h was decreased;|GAA concentrations in plasma, urine, and CSF were markedly elevated assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of metabolite creatine/PCCID:586 200366 AN6184-1 Decreased Creatine Creatine PCCID:586 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:34440375 The biochemical signature of GAMT-D is the increase in guanidinoacetic acid (GAA) concentration associated with low levels of creatine in bodily fluids (urine, plasma, and cerebrospinal fluid (CSF)) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:level Decreased level of metabolite creatine/PCCID:586 200366 AN6184-1 Increased guanidinoacetic acid Guanidinoacetic acid PCCID:763 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:18652076 GAA is the main intermediary product in creatine biosynthesis. In GAMT deficiency, GAA accumulates about 200-fold in CSF.;|The biochemical hallmarks of these disorders include cerebral creatine deficiency and specific disturbances in metabolites of creatine metabolism in body fluids assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite guanidinoacetic acid/PCCID:763 200366 AN6184-1 Increased guanidinoacetic acid Guanidinoacetic acid PCCID:763 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:15234333 Creatine in serum was in the low normal range, and creatine excretion during 24 h was decreased;|GAA concentrations in plasma, urine, and CSF were markedly elevated assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite guanidinoacetic acid/PCCID:763 200366 AN6184-1 Increased guanidinoacetic acid Guanidinoacetic acid PCCID:763 metabolite guanidinoacetate methyltransferase deficiency DOID:0050799 diagnostic csf UBERON:0001359 PubMed:34440375 The biochemical signature of GAMT-D is the increase in guanidinoacetic acid (GAA) concentration associated with low levels of creatine in bodily fluids (urine, plasma, and cerebrospinal fluid (CSF)) assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of metabolite guanidinoacetic acid/PCCID:763 200366 AN6185-1 Decreased Alpha-L-iduronidase activity Alpha-L-iduronidase PCSID:381121448 protein mucopolysaccharidosis I DOID:12802 diagnostic blood UBERON:0000178 PubMed:32154058 Bivariate analysis of iduronidase enzyme activity with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment.;|To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based on known biomarkers, alpha-L-iduronidase enzyme activity (IDUA) and level of the glycosaminoglycan (GAG) heparan sulfate (HS). Bivariate analysis of IDUA with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein alpha-L-iduronidase/PCSID:381121448 200367 AN6185-1 Decreased Alpha-L-iduronidase activity Alpha-L-iduronidase PCSID:381121448 protein mucopolysaccharidosis I DOID:12802 diagnostic blood UBERON:0000178 PubMed:30057281 MPS I is an autosomal, recessive disorder, caused by a deficiency of hydrolase _-L-iduronidase. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein alpha-L-iduronidase/PCSID:381121448 200367 AN6185-1 Decreased Alpha-L-iduronidase activity Alpha-L-iduronidase PCSID:381121448 protein mucopolysaccharidosis I DOID:12802 diagnostic blood UBERON:0000178 PubMed:23958290 Mucopolysaccharidoses I caused by deficiency of Alpha-L-iduronidase enzyme, which leads to accumulation of Heparan and Dermatan sulfates. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein alpha-L-iduronidase/PCSID:381121448 200367 AN6186-1 Decreased iduronate-2-sulfatase activity Iduronate-2-sulfatase PCSID:481101668 protein mucopolysaccharidosis II DOID:12799 diagnostic blood UBERON:0000178 PubMed:15797184 Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed by demonstrating low iduronate-2-sulfatase activity. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein iduronate-2-sulfatase/PCSID:481101668 200368 AN6186-1 Decreased iduronate-2-sulfatase activity Iduronate-2-sulfatase PCSID:481101668 protein mucopolysaccharidosis II DOID:12799 diagnostic blood UBERON:0000178 PubMed:18245410 Absent or low iduronate-2-sulfatase activity in males is diagnostic of MPS II assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein iduronate-2-sulfatase/PCSID:481101668 200368 AN6186-1 Decreased iduronate-2-sulfatase activity Iduronate-2-sulfatase PCSID:481101668 protein mucopolysaccharidosis II DOID:12799 diagnostic blood UBERON:0000178 PubMed:30057281 MPS II is caused by the deficiency of hydrolase Iduronate-2-sulfatase. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein iduronate-2-sulfatase/PCSID:481101668 200368 AN6186-1 Decreased iduronate-2-sulfatase activity Iduronate-2-sulfatase PCSID:481101668 protein mucopolysaccharidosis II DOID:12799 diagnostic blood UBERON:0000178 PubMed:8281149 Iduronate-2-sulfatase gene mutations in patients with mucopolysaccharidosis type II allow for fast and reliable carrier detection and prenatal diagnosis. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein iduronate-2-sulfatase/PCSID:481101668 200368 AN6186-1 Decreased iduronate-2-sulfatase activity Iduronate-2-sulfatase PCSID:481101668 protein mucopolysaccharidosis II DOID:12799 diagnostic blood UBERON:0000178 PubMed:7581397 Mutations in the iduronate-2-sulfatase gene are associated with severe reductions in iduronate-2-sulfatase enzyme activity in patients with Mucopolysaccharidosis type II. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:decreased;aspect_type:activity Decreased activity of protein iduronate-2-sulfatase/PCSID:481101668 200368 AN6187-1 Increased very long chain fatty acids Very long chain fatty acids PCSID:405235122 lipid adrenoleukodystrophy DOID:10588 diagnostic blood UBERON:0000178 PubMed:15670720 Enhanced VLCFA elongation is associated with impaired peroxisomal beta-oxidation in X-linked adrenoleukodystrophy, suggesting its potential use as a reliable biomarker. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of lipid very long chain fatty acids/PCSID:405235122 200369 AN6187-1 Increased very long chain fatty acids Very long chain fatty acids PCSID:405235122 lipid adrenoleukodystrophy DOID:10588 diagnostic blood UBERON:0000178 PubMed:11748843 In males, unambiguous diagnosis of X-linked adrenoleukodystrophy can be achieved by demonstrating elevated levels of VLCFA in plasma. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of lipid very long chain fatty acids/PCSID:405235122 200369 AN6187-1 Increased very long chain fatty acids Very long chain fatty acids PCSID:405235122 lipid adrenoleukodystrophy DOID:10588 diagnostic blood UBERON:0000178 PubMed:15924749 ABCD1 gene mutational analysis and postnatal plasma VLCFAs level test verified that amniocytes VLCFAs level analysis is a reliable prenatal diagnostic method for this disease. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of lipid very long chain fatty acids/PCSID:405235122 200369 AN6187-1 Increased very long chain fatty acids Very long chain fatty acids PCSID:405235122 lipid adrenoleukodystrophy DOID:10588 diagnostic blood UBERON:0000178 PubMed:32934269 Serum VLCFA are reliable biomarkers for detecting X-linked Adrenoleukodystrophy with a sensitivity of 97% and specificity of 94.1%. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of lipid very long chain fatty acids/PCSID:405235122 200369 AN6187-1 Increased very long chain fatty acids Very long chain fatty acids PCSID:405235122 lipid adrenoleukodystrophy DOID:10588 diagnostic blood UBERON:0000178 DOI:10.47895/amp.v51i3.1963 VLCFA analysis has a significant diagnostic yield of 54% for X-linked adrenoleukodystrophy, making it a reliable biomarker. assessed_biomarker_entity;best_biomarker_role;biomarker;condition;specimen change_type:increased;aspect_type:level Increased level of lipid very long chain fatty acids/PCSID:405235122 200369