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Phenylketonuria (PKU) is a genetic disorder that affects how the body processes a type of amino acid called phenylalanine. Individuals with this condition lack an enzyme called phenylalanine hydroxylase (PAH) that is necessary to break down phenylalanine, leading to a buildup of this amino acid in the blood and brain. The consequences of this buildup can be serious, including intellectual disability, developmental delays, behavioral problems, and seizures. As such, early detection and management of PKU are critical for ensuring the best possible outcomes for affected individuals. PKU is typically identified through newborn screening, which involves a simple blood test performed within the first few days of life. If PKU is detected, treatment can begin immediately. The primary treatment for PKU involves a strict low-phenylalanine diet, which involves avoiding high protein foods, such as meat, fish, dairy, and eggs, as well as certain artificial sweeteners that contain phenylalanine. In addition to the low-phenylalanine diet, individuals with PKU may also receive medical foods that provide the necessary nutrients without phenylalanine. These medical foods are specially formulated to meet the unique nutritional needs of individuals with PKU and can be obtained through a prescription from a doctor or dietitian. While there is no cure for PKU, early diagnosis and ongoing treatment can help prevent the serious health complications associated with this condition. It is important for individuals with PKU to work closely with their healthcare team to manage their diet, monitor their blood levels of phenylalanine, and address any other medical needs that may arise. PKU is a rare genetic disorder, affecting approximately 1 in 10,000 to 15,000 newborns worldwide. However, with early detection and effective treatment, individuals with PKU can lead healthy, fulfilling lives and achieve their fullest potential. It is important for parents and healthcare professionals to be aware of the signs and symptoms of PKU and to consider newborn screening for this condition as part of routine medical care. With early detection and intervention, individuals with PKU can thrive and reach their full potential.

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