ABSTRACT
Developmental delay, macrocephaly, seizures, vomiting, cerebral atrophy, D-2-hydroxyglutaric aciduria and defective activity of D-2-hydroxyglutarate dehydrogenase (type 1); gain of function mutations in IDH2 the gene for isocitrate dehydrogenase (type 2); and facial dysmorphism and epileptic encephalopathy deficiency of SLC25A1 in combined D-2 and L2-hydroxyglutaric aciduria.
