D2-Hydroxyglutarate Dehydrogenase (D2HGDH)

D2HGDH encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.Subcellular fractionation of rat livers indicated that rat D2hgdh was present in the mitochondrial fraction. Assays of D-2-hydroxyglutarate dehydrogenase in rat tissues indicated that this enzyme is most active in liver and kidney but is also active in heart and brain .