Article
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.
Molecular genetics and metabolism - 1 Feb 2009
Purevsuren Jamiyan, Kobayashi Hironori, Hasegawa Yuki, Mushimoto Yuichi, Li Hong, Fukuda Seiji, Shigematsu Yosuke, Fukao Toshiyuki, Yamaguchi Seiji
Abstract excerpt
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...
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