Patient's question:
My girlfriend's second daughter was diagnosed with phenylketonuria. They said this disease is incurable and the child will become mentally retarded. I want to know if this is true? What is phenylketonuria? What are its symptoms and causes? Phenylketonuria symptoms and causes?Doctor's answer:
Phenylketonuria 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. As a result, the concentration of phenylalanine in the blood and tissues increases significantly, while the levels of phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine are markedly elevated, hence the name "phenylketonuria."