Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

Details

Serval ID
serval:BIB_CCF8C5C656DF
Type
Article: article from journal or magazin.
Collection
Publications
Title
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Journal
Journal of Inherited Metabolic Disease
Author(s)
Hoffmann G.F., Böhles H.J., Burlina A., Duran M., Herwig J., Lehnert W., Leonard J.V., Muntau A., Plecko-Starting F.K., Superti-Furga A., Trefz F.K., Christensen E.
ISSN
0141-8955 (Print)
ISSN-L
0141-8955
Publication state
Published
Issued date
1995
Volume
18
Number
2
Pages
173-176
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't32nd Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism, EDINBURGH, SCOTLAND, SEP 06-09, 1994
Abstract
Glutaryl-CoA dehydrogenase deficiency (GDD; McKusick 231670) orglutaric aciduria type I is an inborn error of lysine, hydroxylysineand tryptophan catabolism due to deficiency of glutaryl-CoAdehydrogenase (EC 1.3.99.7). The mitochondrial flavin-adeninedinucleotide-requiring enzyme catalyses the dehydrogenation ofglutaryl-CoA as well as the subsequent decarboxylation ofglutaconyl-CoA to crotonyl-CoA. Clinical and biochemicalcharacteristics of the disease, especially the course of disease, aredistinct and different from other well-known disorders of amino acidcatabolism (Amir et al 1989; Haworth et al 1991; Hoffmann et al 1991;Morton et al 1991; Kyllerman et al 1994).Following a workshop in 1993, new data not previously published arepresented in this report on more than 20 patients with GDD, revealinghitherto unreported details of the clinical presentation and thenatural history of this probably still widely underdiagnosedneurometabolic disorder.
Keywords
Adolescent, Brain Diseases, Metabolic/diagnosis, Child, Child, Preschool, Disease Progression, Glutaryl-CoA Dehydrogenase, Humans, Infant, Oxidoreductases/deficiency, Oxidoreductases Acting on CH-CH Group Donors
Pubmed
Web of science
Create date
14/03/2011 16:14
Last modification date
20/08/2019 15:47
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