PTPS deficiency can usually be detected by the same screening test used for PKU, because both disorders result in elevated levels of Phenylalanine. This test is known as the Guthrie test and is done on babies a few days after birth. Another diagnostic method is to measure Pteridine levels in urine and to measure neurotransmitters 5-hydroxyindolacetic acid (5-HIAA) and homovanillic acid (HVA).
6-Pyruvoyltetrahydropterin synthase deficiency
Arginine:glycine amidinotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Triosephosphate isomerase deficiency
Carbamoyl phosphate synthetase I deficiency
Aldolase A deficiency
Transaldolase deficiency
Malonyl-CoA decarboxylase deficiency