PKU (Phenylketonuria)

Phenylketonuria (PKU) is a genetic disorder that affects how the body processes an amino acid called phenylalanine, found in many protein-rich foods. People with PKU lack an enzyme necessary to break down phenylalanine, leading to its buildup, which can damage the brain and cause intellectual disabilities if left untreated. It is usually detected through newborn screening. Individuals with PKU must follow a strict low-phenylalanine diet, avoiding high-protein foods like meat, dairy, and nuts, to prevent complications and lead a healthy life. Early diagnosis and dietary management are crucial for effective treatment.