Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
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.
Ikeda
H
H
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Kimura
T
T
Ikegami
T
T
Kato
M
M
Matsunaga
A
A
Yokoyama
S
S
Yamaguchi
S
S
Ohura
T
T
Hayasaka
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine; D019943:Amino Acid Substitution; D005260:Female; D005796:Genes / Q000235:genetics*; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase