Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency
@article{Sauer2007BiochemistryAB, title={Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency}, author={Sven Sauer}, journal={Journal of Inherited Metabolic Disease}, year={2007}, volume={30}, pages={673-680} }
SummaryGlutaryl-CoA dehydrogenase (GCDH) is a central enzyme in the catabolic pathway of l-tryptophan, l-lysine, and l-hydroxylysine which catalyses the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO2. Glutaryl-CoA dehydrogenase deficiency (GDD) is an autosomal recessive disease characterized by the accumulation of glutaric and 3-hydroxyglutaric acids in tissues and body fluids. Untreated patients commonly present with severe striatal degeneration during encephalopathic crises…
13 Citations
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GCDH gene silencing and accumulation of lysine metabolites may not cause marked hepatocyte injury and there was no significant difference in the expression of Caspase-3 protein between groups (P>0.05).
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Lysine plays several roles in humans, most importantly proteinogenesis, but also in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism.
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