PMID- 10480371
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 1-2
DP  - 1999 Jul-Aug
TI  - Identification of two novel mutations in OCTN2 of three patients with systemic
      carnitine deficiency.
PG  - 157-61
AB  - Systemic carnitine deficiency is a potentially lethal, autosomal recessive
      disorder characterized by cardiomyopathy, myopathy, recurrent episodes of
      hypoketotic hypoglycemia, hyperammonemia, and failure to thrive. This form of
      carnitine deficiency is caused by a defect in the active cellular uptake of
      carnitine, and the gene encoding the high affinity carnitine transporter OCTN2
      has recently been shown to be mutated in patients suffering from this disorder.
      Here, we report the underlying molecular defect in three unrelated patients. Two 
      patients were homozygous for the same missense mutation 632A-->G, which changes
      the tyrosine at amino acid position 211 into a cysteine (Y211C). The third
      patient was homozygous for a nonsense mutation, 844C-->T, which converts the
      arginine at amino acid position 282 into a stop codon (R282X). Reintroduction of 
      wild-type OCTN2 cDNA into fibroblasts of the three patients by transient
      transfection restored the cellular carnitine uptake, confirming that mutations in
      OCTN2 are the cause of systemic carnitine deficiency.
FAU - Vaz, F M
AU  - Vaz FM
AD  - Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical
      Center, University of Amsterdam, The Netherlands.
FAU - Scholte, H R
AU  - Scholte HR
FAU - Ruiter, J
AU  - Ruiter J
FAU - Hussaarts-Odijk, L M
AU  - Hussaarts-Odijk LM
FAU - Pereira, R R
AU  - Pereira RR
FAU - Schweitzer, S
AU  - Schweitzer S
FAU - de Klerk, J B
AU  - de Klerk JB
FAU - Waterham, H R
AU  - Waterham HR
FAU - Wanders, R J
AU  - Wanders RJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Membrane Proteins)
RN  - 0 (Organic Cation Transport Proteins)
RN  - 0 (SLC22A5 protein, human)
RN  - 0 (Solute Carrier Family 22 Member 5)
RN  - S7UI8SM58A (Carnitine)
SB  - IM
MH  - Base Sequence
MH  - Carnitine/*deficiency/*genetics
MH  - Carrier Proteins/*genetics
MH  - Child, Preschool
MH  - Cloning, Molecular
MH  - DNA, Complementary/analysis
MH  - Female
MH  - Fibroblasts
MH  - Homozygote
MH  - Humans
MH  - Infant
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - *Organic Cation Transport Proteins
MH  - Phenotype
MH  - *Point Mutation
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Solute Carrier Family 22 Member 5
MH  - Transfection
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - 10.1007/s004399900105 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105.