Noun: phenylketonuria ,fe-n(u)l,kee-t(u)n'ûr-ee-u [N. Amer], ,fe-nil,kee-tu'nyûr-ee-u [Brit]
- 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
"Early detection of phenylketonuria is crucial for effective management";
- PKU
Derived forms: phenylketonurias
Type of: inborn error of metabolism
Encyclopedia: Phenylketonuria, maternal