Phenylketonuria (PKU)

Phenylketonuria is also known as PKU and affects approximately 1 out every 10,000-15,000 babies.

It is a genetic birth disorder in which the liver is missing an enzyme that is necessary for breaking down and digesting phenylalanine. Because phenylalanine is found in cow’s milk, infant formulas and breast milk, the baby is unable to digest it properly.

Common symptoms of the disorder include epilepsy, a musty odor, small head, short stature, eczema and flat feet. While the condition can affect anyone, most of the babies affected have blond hair and blue eyes.

Treatment of PKU is essential so that brain damage and retardation do not develop. Treatment includes removing phenylalanine from the child’s diet.