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Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
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.