preferred_name: BH4-deficient hyperphenylalaninemia A
preferred_name_lc: bh4-deficient hyperphenylalaninemia a
label: hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
label_lc: hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency