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Selected Publication:
Hoffmann, GF; Böhles, HJ; Burlina, A; Duran, M; Herwig, J; Lehnert, W; Leonard, JV; Muntau, A; Plecko-Starting, FK; Superti-Furga, A.
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
J Inherit Metab Dis. 1995; 18(2):173-176
Doi: 10.1007/BF00711759
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- Co-authors Med Uni Graz
- Plecko Barbara
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- Abstract:
- Glutaryl-CoA dehydrogenase deficiency (GDD; McKusick 231670) or glutaric aciduria type I is an inborn error of lysine, hydroxylysine and tryptophan catabolism due to deficiency of glutaryl-CoA dehydrogenase (EC 1.3.99.7). The mitochondrial flavin-adenine dinucleotide-requiring enzyme catalyses the dehydrogenation of glutaryl-CoA as well as the subsequent decarboxylation of glutaconyl-CoA to crotonyl-CoA. Clinical and biochemical characteristics of the disease, especially the course of disease, are distinct and different from other well-known disorders of amino acid catabolism (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 are presented in this report on more than 20 patients with GDD, revealing hitherto unreported details of the clinical presentation and the natural history of this probably still widely underdiagnosed neurometabolic disorder.
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