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

doi:10.1016/j.ymgme.2008.10.012

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

Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6.

Authors

Jamiyan Purevsuren¹, Hironori Kobayashi, Yuki Hasegawa, Yuichi Mushimoto, Hong Li, Seiji Fukuda, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Yamaguchi

Affiliation

¹ Department of Pediatrics, Shimane University, Faculty of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan.

PMID: 19064330
DOI: 10.1016/j.ymgme.2008.10.012

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Acyl-CoA Dehydrogenase / deficiency*
Acyl-CoA Dehydrogenase / genetics
Humans
Infant
Japan
Lipid Metabolism, Inborn Errors / genetics*
Mutation*
Phenotype

Substances

Acyl-CoA Dehydrogenase