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Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

✍ Scribed by lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, Akira; Yokoyama, Shinkichi; Yamaguchi, Seiji; Ohura, Toshihiro; Hayasaka, Kiyoshi

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 9 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<327::aid-ajmg5>3.0.co;2-6

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✦ Synopsis

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. Molecular analysis is useful for definite diagnosis and/or prenatal diagnosis of GA-I.

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