Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. Disease data Klasyfikacja Disease Synonimy Hyperphenylalaninemia due to BH4 deficiency Hiperfenylalaninemia nie związana z fenyloketonurią Hiperfenyloalaninemia z powodu niedoboru BH4 Hiperfenyloalaninemia z powodu niedoboru tetrahydrobiopteryny Non-phenylketonuric hyperphenylalaninemia Kod ORPHA 238583 Kod OMIM 261640 Kod ICD10 E70.1 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl