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Noun: phenylketonuria  ,fe-n(u)l,kee-t(u)n'ûr-ee-u [N. Amer], ,fe-nil,kee-tu'nyûr-ee-u [Brit]
  1. 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
    - PKU

Derived forms: phenylketonurias

Type of: inborn error of metabolism

Encyclopedia: Phenylketonuria, maternal