L2HGDH and L-2-hydroxyglutaric aciduria: L-2-hydroxyglutaric aciduria is an autosomal recessive neurometabolic disorder characterized by the accumulation of L-2-hydroxyglutarate [1, 2, 3, 4] and caused by a deficiency in L-2-hydroxyglutarate dehydrogenase [5, 6, 7].