Phenylketonuria (PKU)
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency in an enzyme called phenylalanine hydroxylase. This enzyme is crucial for breaking down an amino acid called phenylalanine, found in many protein-rich foods. When PKU is unmanaged, phenylalanine accumulates in the body, leading to brain damage and intellectual disabilities. PKU is typically screened in newborns, and those diagnosed can manage the condition through a strict diet low in phenylalanine, avoiding high-protein foods. Early diagnosis and intervention can help individuals with PKU lead healthy lives and develop normally.
Additional Insights
-
Phenylketonuria (PKU) is a genetic disorder where the body cannot break down an amino acid called phenylalanine, found in many protein-containing foods. If not managed, phenylalanine can build up in the blood, leading to brain damage and intellectual disabilities. PKU is usually diagnosed through newborn screenings, and treatment involves a strict diet low in protein and special medical foods. Early detection and dietary management allow individuals with PKU to live healthy lives, but lifelong adherence to the diet is essential to prevent serious health issues.