Homozygous or compound heterozygous mutations in 3-phosphoglycerate<unk>  (PHGDH) cause Neu-Laxova syndrome and phosphoglycerate<unk>  deficiency.
D-glycerate dehydrogenase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
Malonyl-CoA decarboxylase deficiency
Pyruvate kinase deficiency
Glutaminase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency