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Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

✍ Scribed by Willy Lehnert; Jörn Oliver Sass


Book ID
116742611
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
83 KB
Volume
65
Category
Article
ISSN
0306-9877

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Novel mutations of the glutaryl-CoA dehy
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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 a