Taiwanese Chinese are more likely to get PTPS deficiency as the prevalence in Taiwanese Chinese is about 1/132,000 compared to white individuals at about 1/1,000,000. The image below illustrates frequency of different BH4 deficiency defects. This is suggested to be due to the Founder effect. The smaller pie charts on the side illustrate the incidence of DHPR and PTPS deficiency around the world. As can be seen PTPS deficiency occurs most commonly in Asian countries and this makes sense because of the incidence of this disease in Taiwanese Chinese being significantly higher than any other population.
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