Phenylketonuria

Phenylketonuria happens when someone inherits a genetic mutation from both the mother and the father. This disrupts the function of PAH, an important enzyme. Without this enzyme, there can many problems in the brain. Most children are screened before any symptoms develop. But symptoms can include a small head, mental retardation and epilepsy. In the skin if can cause light skin and hair, and a musty odor. Children are screened for Phenylketonuria in their blood at an early age. Incidence: 1 in every 10,000, but some are higher or lower. Children with this disease must have a low-protein diet. They should continue doing this for most of their life.