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NCI Dictionary of Cancer Terms


phenylketonuria  listen  (FEH-nil-KEE-tone-yoor-ee-uh)

  An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine. Also called PKU.