PMID- 10612840
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20171116
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient
      with primary systemic carnitine deficiency.
PG  - 118
AB  - Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of
      fatty acid oxidation caused by defective cellular carnitine transport. The
      disease is characterized by metabolic derangement simulating Reye's syndrome,
      hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. Recently, it was 
      shown that SCD is caused by mutations in the organic cation/carnitine transporter
      OCTN2 (SLC22A5). We report two novel mutations, W283R and V446F, which are both
      missense mutations in an affected infant. In vitro expression studies
      demonstrated that both are actually function-loss mutations with virtually no
      uptake activity. This is the first report of compound heterozygosity for two
      missense mutations in a patient with SCD. Hum Mutat 15:118, 2000.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Mayatepek, E
AU  - Mayatepek E
AD  - Department of General Pediatrics, University Children's Hospital, Heidelberg,
      Germany. ertan_mayatepek@med.uni-heidelberg.de
FAU - Nezu, J
AU  - Nezu J
FAU - Tamai, I
AU  - Tamai I
FAU - Oku, A
AU  - Oku A
FAU - Katsura, M
AU  - Katsura M
FAU - Shimane, M
AU  - Shimane M
FAU - Tsuji, A
AU  - Tsuji A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Carrier Proteins)
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  - Carnitine/*deficiency/metabolism
MH  - Carrier Proteins/*genetics/metabolism
MH  - Cell Line
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Male
MH  - Membrane Proteins/*genetics/metabolism
MH  - Mutagenesis, Site-Directed
MH  - Mutation, Missense
MH  - *Organic Cation Transport Proteins
MH  - Solute Carrier Family 22 Member 5
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):118. doi:
      10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8.