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Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.henylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Definition of Phenylketonuria. Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.Newborns are screened for phenylketonuria (PKU) by a blood test, usually with the Guthrie card bloodspot obtained from a heelprick.Treatment is with a special diet low in phenylalanine. The goal is to normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage.ewborns are screened for phenylketonuria (PKU) by a blood test, usually with the Guthrie card bloodspot obtained from a heelprick. Treatment is with a special diet low in phenylalanine. The goal is to normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage.