title: Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
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.
authors.affiliation: Department of Pediatrics, G. Gaslini Institute, University of Genoa, Genoa, Italy. cerone@unige.it
authors.forename: R
authors.initials: R
authors.lastname: Cerone
authors.forename: M C
authors.initials: MC
authors.lastname: Schiaffino
authors.forename: A R
authors.initials: AR
authors.lastname: Fantasia
authors.forename: M
authors.initials: M
authors.lastname: Perfumo
authors.forename: L
authors.initials: L
authors.lastname: Birk Moller
authors.forename: N
authors.initials: N
authors.lastname: Blau
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D001708:Biopterins; C003402:sapropterin