Once there is a clinical suspicion of the diagnosis, neurotransmitters can be analysed in cerebrospinal fluid from a lumbar puncture. If these show the pattern of abnormalities typical for<unk> , the diagnosis can be confirmed by genetic testing and/or measurement of enzyme activity.
Aromatic L-amino acid decarboxylase deficiency
Arginine:glycine amidinotransferase deficiency
D-bifunctional protein deficiency
Beta-ketothiolase deficiency
Ornithine aminotransferase deficiency
Aldolase A deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency
Aminoacylase 1 deficiency