Newborn disease screening for PKU

Patient's question:

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Doctor's answer:

Hello
Phenylketonuria (PKU) is a genetic metabolic disease caused by a decrease in the activity of phenylalanine hydroxylase or a deficiency of its coenzyme tetrahydrobiopterin, leading to a block in the metabolism of phenylalanine to tyrosine. This results in elevated phenylalanine levels in the blood and tissues, as well as a significant increase in phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine, hence the name "phenylketonuria."
Medical Advice: Children with PKU may develop congenital intellectual disability. It is recommended to undergo comprehensive examinations at a regular hospital for accurate diagnosis and timely symptomatic treatment. Wishing you good health.