How common is phenylketonuria?

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. read more

The occurrence of phenylketonuria (PKU) varies among ethnic groups and geographic regions worldwide. In the U.S, PKU occurs in one in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. read more

*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. read more