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

Details

Serval ID
serval:BIB_882117A71BB4
Type
Article: article from journal or magazin.
Collection
Publications
Title
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Journal
Human Genetics
Author(s)
Schwartz M., Christensen E., Superti-Furga A., Brandt N.J.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Publication state
Published
Issued date
1998
Volume
102
Number
4
Pages
452-458
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Abstract
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 others, which seem to be private" mutations. Here we report the entire sequences of introns 1, 2, 3, 6, 7, 8 and 9, and part of those of introns 4, 5 and 10 as well as 21 different mutations in 20 patients with GAI, corresponding to 38 out of 40 alleles.
Keywords
Amino Acid Metabolism, Inborn Errors/genetics, Amino Acid Metabolism, Inborn Errors/urine, Amino Acid Sequence, Base Sequence, Cells, Cultured, Fibroblasts, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Humans, Introns, Molecular Sequence Data, Mutation, Oxidoreductases/chemistry, Oxidoreductases/genetics, Oxidoreductases Acting on CH-CH Group Donors, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA
Pubmed
Web of science
Create date
14/03/2011 17:14
Last modification date
03/03/2018 19:04
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