Fenüülketonuuria

Fenüülketonuuria is a rare inherited metabolic disorder that affects how the body processes a specific amino acid called phenylalanine. This amino acid is found in most protein-containing foods. Normally, an enzyme called phenylalanine hydroxylase converts phenylalanine into tyrosine, another amino acid. In individuals with PKU, this enzyme is either absent or doesn't function properly.

When phenylalanine cannot be broken down, it builds up in the blood and other tissues. If left untreated, high levels of phenylalanine can be toxic to the brain, leading to intellectual disability, behavioral problems, seizures, and other neurological issues.

PKU is diagnosed through newborn screening programs, which are standard in many countries. Early detection and treatment are crucial for preventing severe health consequences. The primary treatment for PKU is a lifelong special diet that is very low in phenylalanine. This diet typically involves avoiding high-protein foods like meat, fish, dairy, eggs, and nuts, and substituting them with specially formulated medical foods and low-protein alternatives. Close monitoring of phenylalanine levels in the blood is essential to ensure the diet is effective and to adjust it as needed.

While there is no cure for PKU, adherence to the specialized diet allows individuals to lead healthy and productive lives. Genetic counseling is often recommended for families with a history of PKU.