Phenylketonuria (PKU) is a genetic disorder that affects how the body processes an amino acid called phenylalanine. Normally, an enzyme called phenylalanine hydroxylase breaks down phenylalanine, but in people with PKU, this enzyme is either missing or not functioning properly. As a result, phenylalanine can build up in the body, leading to serious health issues, including intellectual disabilities and neurological problems.
PKU is inherited in an autosomal recessive pattern, meaning a child must receive two copies of the faulty gene, one from each parent, to develop the condition. Early diagnosis through newborn screening allows for dietary management, which involves a low-phenylalanine diet to prevent complications. With proper treatment