Appearance:A solution in ethanol
|IUPAC Name:||(2S)-2-hydroxypentanedioic acid|
(2S)-Hydroxyglutaric acid is a natural α-hydroxy acid that is normally metabolized to 2-oxoglutarate (α-ketoglutarate) by L-2-hydroxyglutarate dehydrogenase (L2HGDH). Mutations in L2HGDH result in L-2-hydroxyglutaric aciduria, an autosomal recessive disorder resulting in neurological impairment at a young age. Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2, typically associated with certain cancers, can cause these enzymes to convert isocitrate to 2-hydroxyglutaric acid, rather than 2-oxoglutarate. (2S)-Hydroxyglutaric acid inhibits 2-oxoglutarate-dependent dioxygenases, including lysine demethylases and DNA hydroxylases.