Question

What is Phenylketonuria? Can it be cured?

Answer

Phenylketonuria is a genetic disorder where the body cannot metabolize phenylalanine normally, leading to excessive accumulation and affecting brain development. If diagnosed and treated early before symptoms appear, most patients can achieve normal intellectual levels. However, if left untreated or treated late, most patients will experience intellectual, motor, and language developmental delays. Early treatment leads to better outcomes. Those treated within one month of birth are more likely to avoid intellectual impairments. Delayed treatment can result in more significant brain damage. Therefore, immediate treatment should be initiated upon confirmation of the diagnosis.