What is the treatment strategy recommended for managing Phenylketonuria?

The recommended treatment strategy for managing Phenylketonuria (PKU) is a low-protein diet combined with a phenylalanine-free (Phe-free) medical formula. PKU is an inherited metabolic disorder characterized by the inability to metabolize phenylalanine, an amino acid found in dietary proteins. High levels of phenylalanine can lead to severe neurological damage, so it is crucial to manage dietary intake to prevent toxic accumulation.

A low-protein diet restricts foods rich in phenylalanine, such as meat, fish, eggs, dairy products, nuts, and legumes. Instead, a specially formulated Phe-free medical formula provides essential nutrients while avoiding phenylalanine, ensuring that individuals with PKU receive adequate dietary support without the risk of toxicity. This approach is vital for maintaining normal cognitive development and preventing the adverse effects of phenylalanine buildup.

While other treatment options, such as enzyme replacement therapy or gene therapy, are being researched and may offer potential future strategies for PKU management, the low-protein diet and Phe-free medical formula remain the cornerstone of current treatment protocols.