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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.
Learning About Phenylketonuria (PKU) What is phenylketonuria (PKU)? What are the symptoms of PKU? How is PKU diagnosed? What is the treatment for PKU? Is PKU inherited? NHGRI Clinical Research on PKU; Additional Resources for PKU; What is phenylketonuria (PKU)? Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners.