In<unk> , alpha-methyl-beta-keto-butyrate, alpha-methyl-beta-OH-butyrate and tiglyl glycine (upstream metabolites of the affected enzyme) may accumulate and may be detected on urine organic acid analysis by GC-MS. This may aid in the diagnosis, but for a more definitive diagnosis genetic confirmation needs to be done.
Beta-ketothiolase deficiency
Transaldolase deficiency
Aromatic L-amino acid decarboxylase deficiency
Aldolase A deficiency
Ornithine aminotransferase deficiency
Pyruvate kinase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
Malonyl-CoA decarboxylase deficiency