title: 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.
abstract: 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.
authors.affiliation: Department of Pediatrics, Shimane University, Faculty of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan.
authors.forename: Jamiyan
authors.initials: J
authors.lastname: Purevsuren
authors.forename: Hironori
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Mushimoto
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.forename: Seiji
authors.initials: S
authors.lastname: Fukuda
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
mesh_terms: 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
chemical_list: D042964:Acyl-CoA Dehydrogenase