Abstract
We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH 4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH 4 loading test. Introduction of BH 4 (initially 10 and later 20 mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (<340 μmol/L). Very good compliance and no side effects in this patient demonstrate the great potential of BH 4 in the treatment of some patients with mild PKU.
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