Description
D-2-Hydroxyglutarate Dehydrogenase (D2HGDH: EC 1.1.99.2) is a mitochondrial enzyme which catalyzes the conversion of D-2- Hydroxyglutarate into 2-Oxoglutarate. In humans, mutation of D2HGDH gene could reduce D2HGDH activity which will cause the D-2- Hydroxyglutarate accumulation in body fluids. Increased D-2-Hydroxyglutarate level in body fluids leads to D-2-Hydroxyglutaric Aciduria, a neurometabolic disorder characterized as developmental delay, epilepsy, hypotonia, and dysmorphic features