phenylketonuria

Definition / meaning of phenylketonuria

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.

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Source(s):

The Web site of the National Cancer Institute (http://www.cancer.gov/)

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