1) is notable for lactic and glutaric acid peaks, secondary to diminished perfusion and defective glutaryl-CoA
dehydrogenase activities, respectively.
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine and L-tryphtophan.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Glutaric aciduria type 1 is the most common OA in South Africa and is caused by AR deficiency of glutaryl-CoA dehydrogenase (GCDH), a critical enzyme in the infantile neuronal lysine catabolic pathway.
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Assignment of human glutaryl-CoA
dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.
organic acidurias such as glutaryl-CoA
dehydrogenase, 3-hydroxy-3-methylglutaryl-CoA lyase, [beta]-ketothiolase, Propionyl-CoA carboxylase, Methylmalonyl-CoA mutase, and Isovaleryl-CoA dehydrogenase) (Vreken et al.
One possible association is that thyroxine may inhibit the rate limiting enzyme in the production of cholesterol, hydroxymethyl glutaryl-CoA reductase.
Cholesterol-a-hydroxylase and hydroxymethyl glutaryl-CoA reductase working together with adequate copper and thyroxine would be expected to be the normal way to control cholesterol.
Screening the urine for a deficiency of glutaryl-CoA
dehydrogenase makes the diagnosis.