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Article

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

Human genetics - 1 Apr 1998

Schwartz M, Christensen E, Superti-Furga A, Brandt N J

Abstract excerpt

Glutaric acidemia type I (GAI) (McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by a defect in the gene encoding glutaryl-coenzyme A dehydrogenase (GCDH) and associated with severe neurological symptoms. Several pathogenic mutations in GCDH have been reported to cause GAI. One mutation, R402W, is more common than the...

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Identifiers

PMID: 9600243
DOI: 10.1007/s004390050720

Genes

GCDH

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