Article
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
American journal of medical genetics - 4 Dec 1998
Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, Yamaguchi S, Ohura T, Hayasaka K
Abstract excerpt
We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val are mutations hitherto undescribed, and all three mutations are predicted to alter the secondary structure of GCDH....
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