What is phenylketonuria?

Patient's question:

What is phenylketonuria? Can it be cured? What precautions should be taken?

Doctor's answer:

If phenylketonuria (PKU) children are not treated or are treated late, most of them will have delayed development in intelligence, motor skills, and language. If diagnosis and treatment can be initiated before symptoms appear, specifically for PKU children diagnosed through newborn screening, timely treatment after diagnosis can allow nearly 90% of children to achieve normal intelligence. However, a small portion of children may still experience intellectual decline due to poor treatment compliance or severe conditions, leading to poor control of phenylalanine levels in the blood.
Children who receive treatment within the first month after birth are more likely to avoid intellectual damage. The later the treatment is started, the more significant the brain damage will be. Therefore, once a child is diagnosed with PKU, treatment should be started immediately, and the earlier the treatment begins, the better the prognosis.

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