Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. Amino acids are the building blocks of proteins, and phenylalanine is found in many foods containing protein.
In individuals with PKU, a specific enzyme called phenylalanine hydroxylase is either missing or not functioning properly. This leads to a buildup of phenylalanine in the blood and brain, which can cause intellectual disability and other neurological problems if left untreated.
Early detection and management of PKU is crucial to prevent complications. Newborn screening programs are in place in many countries to identify affected infants, allowing for dietary intervention to begin promptly. Treatment involves following a strict low-phenylalanine diet, which restricts the intake of certain foods and requires the use of specialized medical formulas to ensure proper nutrition.
With early diagnosis and lifelong management, individuals with PKU can lead healthy lives and prevent the development of severe symptoms. Regular monitoring by healthcare professionals and adherence to the prescribed treatment plan are essential for optimal outcomes.