What Does PKU Stand For?

PKU stands for Phenylketonuria

PKU, or Phenylketonuria, is a genetic metabolic disorder characterized by the inability to metabolize phenylalanine, an amino acid present in many protein-containing foods. This condition arises from mutations in the PAH gene, leading to elevated levels of phenylalanine in the blood, which can cause neurological damage if left untreated. Early diagnosis through newborn screening and adherence to a strict low-phenylalanine diet are essential for managing the disorder and preventing cognitive impairment and other health complications.