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 Met339Va...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Substitution
- Female
- Genes
- Glutarates
- Glutaryl-CoA Dehydrogenase
- Humans
- Infant
- Japan
- Male
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Pedigree