This condition is characterised by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period.
Glutaminase deficiency
Pyruvate kinase deficiency
Enolase deficiency
Multiple carboxylase deficiency
Pyruvate carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Ornithine aminotransferase deficiency