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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 a condition with multiple forms, each of which have different treatments and outcomes. Classic phenylketonuria is only one form of the condition. You can read about a different form of the condition, hyperphenylalanemia, here.