Synonyms/Hypernyms (Ordered by Estimated Frequency) of noun phenylketonuria

1 sense of phenylketonuria

Sense 1
phenylketonuria, PKU -- (a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency)
       => inborn error of metabolism -- (any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism)