Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most frequent form of tetrahydrobiopterin (BH4) deficiency related to hyperphenylalaninemia (HPA). PTPS deficiency may not only cause a typical phenylketonuric phenotype, but is also accompanied by various neurological signs and symptoms due to impaired synthesis of catecholamines and serotonin. The treatment of PTPS deficiency is aimed at normalizing phenylalanine levels and brain neurotransmitters. The BH4 can be administered to normalize phenylalanine (PHE) levels easily, but, owing to severe side effects, the neurotransmitters, l-DOPA and 5-hydroxytryptophan, should be administered for these patients very carefully. However, optimal dosage of the neurotransmitters for PTPS deficiency patients is difficult to be determined. Several reports have described unsatisfied outcomes in a large percentage of patients with PTPS deficiency, despite early detection and treatment. Between 1988 and 2000, 12 newborns with PTPS deficiency identified by newborn screening were referred and received early treatment at our hospital. The mean IQ score of these 12 patients was 96.7 (±9.7; range: 86–119), which is considerably higher than previous reports of other populations of PTPS-deficient patients. In this report, we reviewed the disorders of BH4 briefly and then described treatments of our PTPS-deficient patients.