Urine organic acid analysis usually shows increased levels of GA, 3-OH-GA, glutaryl-CoA, glutarylcarnitine although GA and dicarboxylic carnitines can be completely normal in some patients (11).
Basic metabolic treatment of GA-I is using low lysine diet for reduction of glutaryl-CoA, GA and 3-OH-GA and carnitine supplementation to prevent carnitine depletion.
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.
Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).
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.
(1.) van der Watt G, Owen EP, Berman P, et al.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 (19p13.2) by in situ hybridization and somatic cell hybrid analysis.
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.