title: [Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity].
abstract: A case of non-typical phenylketonuria produced by the inactivity of dihydrobiopterin synthetases is presented. Dihydrobiopterin synthetases are enzymes converting neopterin to biopterin. Presented case indicates a possibility of erroneous classification of hyperphenylalaninemia due to BH4 deficit, if the complete differential diagnosis is not performed. A complete differential diagnosis is necessary in all cases of hyperphenylalaninemia distinguished in neonates during screening tests.
authors.affiliation: Instytutu Matki i Dziecka, Warszawie.
authors.forename: M
authors.initials: M
authors.lastname: Słowik
authors.forename: T
authors.initials: T
authors.lastname: Mańkowski
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D001708:Biopterins / Q000652:urine*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000145:classification / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C020037:7,8-dihydrobiopterin synthetase; D000429:Alcohol Oxidoreductases
vernacular_title: Nietypowa postać fenyloketonurii spowodowana brakiem aktywności syntetazy dihydrobiopterynowej.