A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymptomatic to life-threatening metabolic decompensation in Japanese patients with MCADD, similar to the phenotypic variations in Caucasians. This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD.
Purevsuren
Jamiyan
J
Department of Pediatrics, Shimane University, Faculty of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan.
Kobayashi
Hironori
H
Hasegawa
Yuki
Y
Mushimoto
Yuichi
Y
Li
Hong
H
Fukuda
Seiji
S
Shigematsu
Yosuke
Y
Fukao
Toshiyuki
T
Yamaguchi
Seiji
S
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D007564:Japan; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D042964:Acyl-CoA Dehydrogenase