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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.
What is phenylketonuria (PKU)? Phenylketonuria (PKU) is a rare genetic disorder in which the body cannot break down an amino acid called phenylalanine (say fehn-uhl-AL-uh-neen), which is a part of protein. This substance is found in breast milk, many types of baby formula, and most foods, especially those with a lot of protein, such as meat, eggs, and dairy products.