inborn error of brain metabolic pathway 2-hydroxyglutaric aciduria pathway 2-hydroxyglutaricaciduria disease pathway 2-hydroxyglutaricaciduria pathway 2015-11-10T09:02:17Z An autosomal recessive neurometabolic disorder with several phenotypes and due to mutations in the L2HGDH gene (the L-type), D2HGDH and IDH2 genes (the D-type). A combined L- and D-type has also been observed and has been attributed to mutations in the SLC25A1 gene. PW:0002205 SMP:00136 VPetri pathway