Phenylketonuria is a rare metabolic disorder that affects the way the body breaks down protein. In particular, people with PKU cannot break down a substance in food called phenylalanine. As phenylalanine builds up in the blood, it can cause brain damage. However, early detection and intervention can prevent intellectual disability and result in normal growth and development.
What is Phenylketonia (PKU)
At first, there are often no symptoms in babies born with PKU. However, if left untreated, PKU can result in severe brain damage. Symptoms of PKU include:
What are the symptoms of PKU?
- Fair skin (from too much phenylalanine)