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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.
Phenylketonuria is an inherited disorder. About one in every 15,000 infants born in the United States has PKU. People who are born with PKU are normal in every way except to stay healthy they must follow a strict diet which limits phenylalanine, a common part of most food. People with PKU have an inactive liver enzyme.henylketonuria is an inherited disorder. About one in every 15,000 infants born in the United States has PKU. People who are born with PKU are normal in every way except to stay healthy they must follow a strict diet which limits phenylalanine, a common part of most food. People with PKU have an inactive liver enzyme.