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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) is an inborn error of metabolism transmitted genetically. Both parents must be carriers of the gene to produce a child with this condition. When both parents are carriers of the gene, chances of an affected child occurring are one in four for each pregnancy. There is a 50% chance that a child born to these parents will be a carrier of the phenylketonuria gene. There are no known clinical signs of PKU present in a newborn.