The importance of the reactions executed by D2HGDH and L2HGDH is underscored by the existence of two genetic diseases, D-2-hydroxyglutaric aciduria 1 (D2HGA1, OMIM 600721) and L-2-hydroxyglutaric aciduria (L2HGA, OMIM 236792) due to biallelic loss-of-function of D2HGDH and L2HGDH, respectively, primarily characterized by neurological and developmental abnormalities. Here, L2HGDH is linked to hereditary disease.