L2-hydroxyglutaric aciduria is caused by mutations in L2HGDH. There are two types of D-2-HGA: type I due to D2HGDH mutations (MIM# 600721) and type II linked to gain-of-function mutations in IDH2 (MIM# 613657). Here, L2HGDH is linked to L-2-hydroxyglutaric aciduria.