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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.
Phenylketonuria (PKU) definition and facts* *Phenylketonuria (PKU) medically edited by: Charles Patrick Davis, MD, PhD Phenylketonuria (PKU) is a disease that's inherited that increases the levels of phenylalanine in the blood. If left untreated, high phenylalanine levels can cause intellectual disability and other problems.