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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.
Inheritance of Phenylketonuria refers to whether the condition is inherited from your parents or runs in families. The level of inheritance of a condition depends on how important genetics are to the disease.