This diagnosis is made by sequencing the GLS gene. There is presently no curative treatment. Management is supportive.
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