PKU

Phenylketonuria (PKU) is a genetic disorder where the body cannot properly break down an amino acid called phenylalanine, found in many protein-containing foods. Without treatment, phenylalanine builds up in the blood and brain, potentially causing intellectual disabilities, developmental delays, and other health issues. Early diagnosis through newborn screening and a special low-phenylalanine diet can effectively prevent these problems. Management typically involves consuming a specialized medical formula and monitoring phenylalanine levels to ensure neurological health is maintained throughout life.