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Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
R Cerone1, M C Schiaffino, A R Fantasia
1Department of Pediatrics, G. Gaslini Institute, University of Genoa, Genoa, Italy. cerone@unige.it
Abstract:
We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20 mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (<340 micromol/L). Very good compliance and no side effects in this patient demonstrate the great potential of BH4 in the treatment of some patients with mild PKU.
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