PKU(redirected from phenylketonuria test)
Also found in: Thesaurus, Medical, Encyclopedia.
Switch to new thesaurus
|Noun||1.||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