maternal phenylketonuria
Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine 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 nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
MONDO:0009861
phenylketonuria
is_a
hyperphenylalaninemic embryopathy
exact
maternal PKU
exact
maternal hyperphenylalaninemia
exact
phenylketonuric embryopathy
exact