fenilketonuriában

Fenilketonúria, often abbreviated as PKU, is a rare inherited metabolic disorder that affects how the body processes a specific amino acid called phenylalanine. Phenylalanine is a building block of proteins found in many foods. Individuals with PKU lack the enzyme, phenylalanine hydroxylase (PAH), which is needed to convert phenylalanine into tyrosine, another amino acid. This deficiency causes phenylalanine to build up to toxic levels in the blood and brain.

If left untreated, high levels of phenylalanine can lead to severe intellectual disability, developmental delays, behavioral problems, and seizures. Fortunately, PKU can be detected through newborn screening tests, which are routinely performed in many countries shortly after birth. Early diagnosis is crucial for effective management.

The primary treatment for PKU is a lifelong special diet that is very low in phenylalanine. This involves restricting foods high in protein, such as meat, fish, eggs, dairy products, nuts, and legumes. Infants are typically fed a special medical formula that provides essential nutrients without phenylalanine. As children grow, a carefully managed diet is maintained, often with the help of a registered dietitian. Monitoring blood phenylalanine levels regularly is essential to ensure the diet is working effectively and to prevent complications. With strict adherence to the diet and regular medical care, individuals with PKU can lead healthy and productive lives.