EARLY SIGNS AND COURSE OF DISEASE OF GLUTARYL-COA DEHYDROGENASE-DEFICIENCY

Glutaryl-CoA dehydrogenase deficiency (GDD; McKusick 231670) or glutar ic aciduria type I is an inborn error of lysine, hydroxylysine and try ptophan catabolism due to deficiency of glutaryl-CoA dehydrogenase (EC 1.3.99.7). The mitochondrial flavin-adenine dinucleotide-requiring en zyme catalyses the dehydrogenation of glutaryl-CoA as well as the subs equent 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 work shop in 1993, new data not previously published are presented in this report on more than 20 patients with GDD, revealing hitherto unreporte d details of the clinical presentation and the natural history of this probably still widely underdiagnosed neurometabolic disorder.