Phenylketonuria (PKU) is an inherited metabolic disorder. Individuals with this condition lack a necessary enzyme that breaks down phenylalanine, an amino acid found in many foods. Consequently, phenylalanine accumulates in the blood and can cause intellectual disability and other serious health problems if left untreated.
Early detection and treatment are essential for preventing the irreversible effects of phenylalanine buildup. Newborn screening programs worldwide identify infants with PKU shortly after birth, allowing prompt intervention through a specialized diet low in phenylalanine. This dietary management, maintained throughout life, enables individuals with PKU to live healthy lives and reach their full intellectual potential. The historical development of PKU screening and dietary therapy represents a major success in preventive medicine.
