L'acidurie L-2-hydroxyglutarique, une erreur de la réparation métabolique.
(2007) Academie Royale de Medecine de Belgique. Bulletin et Memoires — Vol. 162, n° 10-12, p. 451-6; discussion 456-7 (2007)
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- The neurometabolic disorder L-2-hydroxyglutaric aciduria was recently shown to be due to a defect in L-2-hydroxyglutarate dehydrogenase. This FAD-linked enzyme catalyses the irreversible conversion of L-2-hydroxyglutarate to alpha-ketoglutarate. The formation of L-2-hydroxyglutarate results from a side-activity of mitochondrial L-malate dehydrogenase, the enzyme which normally catalyses the interconversion of oxaloacetate and L-malate, but which also catalyses the NADH-dependent conversion of alpha-ketoglutarate to L-2-hydroxyglutarate. Though very slow, this activity accounts for the in vivo formation of L-2-hydroxyglutarate. As the latter compound is most likely toxic, L-2-hydroxyglutarate dehydrogenase catalyses a metabolite repair reaction.
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Van Schaftingen, E. (2007). L’acidurie L-2-hydroxyglutarique, une erreur de la réparation métabolique. Academie Royale de Medecine de Belgique. Bulletin et Memoires, 162(10-12), 451-6; discussion 456-7. https://hdl.handle.net/2078.5/66564 (Original work published 2007)