PTS and GTP cyclohydrolase I deficiency with hyperphenylalaninemia: Patients with disorders of BH4 metabolism including GTP cyclohydrolyase I (GTPCH) deficiency, 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, dihydropteridine reductase (DHPR) deficiency and pterin-4a-carbinolamine dehydratase (PCD) deficiency can present with any degree of HPA [19, 20].