PMID- 10356312
OWN - NLM
STAT- MEDLINE
DCOM- 19990712
LR  - 20141120
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 67
IP  - 2
DP  - 1999 Jun
TI  - Sialuria in a Portuguese girl: clinical, biochemical, and molecular
      characteristics.
PG  - 131-7
AB  - Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased
      free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback
      inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the
      fifth patient in the world with sialuria, a 7-year-old Portuguese girl with
      developmental delay, hepatomegaly, coarse facies, and urinary excretion of 19
      micromol of free NeuAc/mg creatinine. The patient's fibroblasts stored excess
      free NeuAc in the cytosolic fraction, and fibroblast UDP-GlcNAc 2-epimerase
      activity was only 26% inhibited by 100 microM CMP-Neu5Ac (normal, 79%). The
      patient's UDP-GlcNAc 2-epimerase gene displayed an R266Q mutation in only one
      allele, consistent with known sialuria mutations and with the proposed dominant
      nature of this disorder. Extensive description of sialuria patients will help to 
      define the clinical and biochemical spectrum of this disease.
CI  - Copyright 1999 Academic Press.
FAU - Ferreira, H
AU  - Ferreira H
AD  - Departamento de Pediatria, Hospital Maria Pia, Porto, Portugal.
FAU - Seppala, R
AU  - Seppala R
FAU - Pinto, R
AU  - Pinto R
FAU - Huizing, M
AU  - Huizing M
FAU - Martins, E
AU  - Martins E
FAU - Braga, A C
AU  - Braga AC
FAU - Gomes, L
AU  - Gomes L
FAU - Krasnewich, D M
AU  - Krasnewich DM
FAU - Sa Miranda, M C
AU  - Sa Miranda MC
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Escherichia coli Proteins)
RN  - 0 (Sialic Acids)
RN  - 3063-71-6 (Cytidine Monophosphate N-Acetylneuraminic Acid)
RN  - EC 5.1.3.- (Carbohydrate Epimerases)
RN  - EC 5.1.3.14 (UDP acetylglucosamine-2-epimerase)
RN  - EC 5.1.3.14 (wecB protein, E coli)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Abnormalities, Multiple/enzymology/genetics
MH  - Carbohydrate Epimerases/antagonists & inhibitors/genetics/metabolism
MH  - Cells, Cultured
MH  - Child
MH  - Cytidine Monophosphate N-Acetylneuraminic Acid/pharmacology
MH  - *Escherichia coli Proteins
MH  - Female
MH  - Fibroblasts/enzymology/metabolism
MH  - Humans
MH  - Intellectual Disability/enzymology/genetics
MH  - Metabolism, Inborn Errors/*enzymology/*genetics/pathology/urine
MH  - N-Acetylneuraminic Acid/metabolism
MH  - Point Mutation
MH  - Sialic Acids/metabolism/*urine
MH  - Subcellular Fractions/enzymology/metabolism
EDAT- 1999/06/05 00:00
MHDA- 1999/06/05 00:01
CRDT- 1999/06/05 00:00
PHST- 1999/06/05 00:00 [pubmed]
PHST- 1999/06/05 00:01 [medline]
PHST- 1999/06/05 00:00 [entrez]
AID - 10.1006/mgme.1999.2852 [doi]
AID - S1096-7192(99)92852-4 [pii]
PST - ppublish
SO  - Mol Genet Metab. 1999 Jun;67(2):131-7. doi: 10.1006/mgme.1999.2852.