What is phenylketonuria?

Patient's question:

Is phenylketonuria curable? I don't know.

Doctor's answer:

Phenylketonuria is a metabolic disease caused by a lack of phenylalanine hydroxylase, leading to the production of large amounts of phenylpyruvate, which is excreted in the urine, resulting in the disease. Children with the condition may develop congenital intellectual disability.
Medical advice: Currently, there is no cure for this disease. The main treatment is dietary control, specifically a low-phenylalanine diet. Medication may also be administered when necessary.

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