Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder affecting how the body processes an amino acid called phenylalanine, found in many high-protein foods. People with PKU lack a specific enzyme needed to break down phenylalanine, leading to its buildup in the body. If untreated, this can cause serious health issues, including intellectual disabilities and neurological problems. Early diagnosis through newborn screening and a strict low-phenylalanine diet can help manage the condition effectively, allowing individuals to lead healthy lives. Regular monitoring and dietary adjustments are essential for those with PKU.