Patient's question:
Please ask if my daughter was diagnosed with congenital phenylketonuria upon birth. Is this condition serious? Please ask if my daughter was diagnosed with congenital phenylketonuria upon birth. Is this condition serious? Can it be cured? The doctor said it is hereditary. Since it is hereditary, why didn't my first child have it? I haven't had her checked yet, and now she is 5 years old and shows no symptoms at all. Please ask if my second child will develop the condition? What tests do my wife and I need to undergo? Please ask if my daughter was diagnosed with congenital phenylketonuria upon birth. Is this condition serious? Can it be cured? Why don't I and my wife feel any discomfort?Doctor's answer:
Hello, 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. This results in elevated levels of phenylalanine 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: The primary goal in this case is to prevent the onset of phenylketonuria. Early diagnosis and early treatment are essential to avoid neurological damage caused by excessive phenylalanine metabolites such as phenylpyruvate, phenylacetic acid, and phenyllactic acid. With active treatment, dietary management should be similar to that of the general population. It is recommended to undergo prenatal testing if you plan to have children.