Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid found in many protein-containing foods. This deficiency arises from a mutation in the gene responsible for producing the enzyme phenylalanine hydroxylase, leading to toxic levels of phenylalanine in the body if left untreated. If not managed, PKU can result in severe intellectual disabilities and neurological damage. Early diagnosis through newborn screening has been crucial in preventing the devastating consequences of the condition. Treatment primarily involves a strict, lifelong low-phenylalanine diet, supplemented with specially formulated medical foods to ensure adequate nutrition while avoiding harmful levels of the amino acid. Recent advancements in gene therapy and new pharmacological options hold promise for the future of PKU management, potentially offering patients more flexibility and improved quality of life. The comprehensive care of individuals with PKU emphasizes not only dietary management but also ongoing support and education for patients and families, helping them navigate the challenges of living with this lifelong condition.
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