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

Jamiyan Purevsuren, Hironori Kobayashi, Yuki Hasegawa, Yuichi Mushimoto, Hong Li, Seiji Fukuda, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Yamaguchi

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-79
Number of pages3
JournalMolecular Genetics and Metabolism
Volume96
Issue number2
DOIs
Publication statusPublished - Feb 2009
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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