Patient's question:
What is phenylketonuria? Can it be cured? What precautions should be taken?Doctor's answer:
If children with phenylketonuria (PKU) are not treated or are treated late, most of them will have delays in intellectual, motor, and language development. If diagnosis and treatment can be initiated before symptoms appear, specifically in PKU children diagnosed through newborn screening, and if treatment is started promptly after diagnosis, nearly 90% of children can achieve normal intelligence. However, a small portion of children may still experience intellectual decline due to insufficient compliance with treatment or severe conditions, leading to poor control of phenylalanine levels in the blood. Most children who receive treatment within the first month after birth can avoid intellectual damage. The later the treatment is started, the more significant the brain damage becomes. Therefore, once a child is diagnosed with PKU, treatment should be initiated immediately, and the earlier the treatment begins, the better the prognosis.