Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. Disease data Classification Malformation syndrome Synonyms Hyperphenylalaninemic embryopathy Embriopatia fenyloketonowa Embriopatia hiperfenyloalaninowa Hiperfenyloalaninemia matczyna PKU matczyna Maternal PKU Maternal hyperphenylalaninemia Phenylketonuric embryopathy ORPHA code 2209 OMIM code 261600 ICD10 code E70.1 ICD11 code 5C50.02 *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