Orphanet_2209 (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. Also known as: Hyperphenylalaninemic embryopathy, Maternal PKU, Maternal phenylketonuria, Phenylketonuric embryopathy.