Definition of "phenylketonuria"
phenylketonuria
/fɛnʌɪlkiːtəˈnjʊəɹɪə/
noun
countable and uncountable, plural phenylketonurias
(medicine) A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.