Maternal hyperphenylalaninemia ICD10:E70.1 Maternal PKU UMLS:C0085547 Phenylketonuric embryopathy OMIM:261600 orphanet Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations. Hyperphenylalaninemic embryopathy Maternal phenylketonuria Disorder of phenylalanin or tyrosine metabolism