Abstract

Phenylketonuria (PKU) is a genetic metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the body. If left untreated, PKU can result in severe neurological impairment and cognitive deficits. This paper explores recent advancements in the management of PKU, focusing on dietary interventions and emerging genetic therapies. Traditionally, the cornerstone of PKU management has been a strict, lifelong low-phenylalanine diet, which requires careful monitoring of protein intake. However, recent studies have demonstrated the potential of alternative dietary strategies, including the use of specialized medical foods and supplements that provide essential nutrients without excessive phenylalanine. In addition to dietary management, innovative genetic therapies are being developed, such as gene therapy and enzyme replacement therapy, which aim to address the underlying metabolic defect. These approaches have shown promise in preclinical and early clinical trials, potentially offering new hope for patients with PKU, especially those who struggle with dietary compliance. This review highlights the importance of a multidisciplinary approach in managing PKU, integrating dietary strategies with advances in genetic research. By understanding and implementing these innovations, healthcare providers can improve patient outcomes and quality of life for individuals affected by this condition. Further research is needed to optimize these therapies and evaluate their long-term efficacy and safety.