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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 (PKU) is a rare genetic condition in which the body cannot break down the essential amino acid phenylalanine.Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and in some artificial sweeteners.henylketonuria (PKU) is a rare genetic condition in which the body cannot break down the essential amino acid phenylalanine.