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 treated? 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 has no issues at all. Will my second child also be affected? 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 treated? Why don't I and my wife have 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."Guidance: In this case, the primary prevention of phenylketonuria involves early diagnosis and early treatment to avoid neurological damage caused by excessive phenylalanine metabolites such as phenylpyruvate, phenylacetic acid, and phenyllactic acid. With active treatment, dietary habits can be managed similarly to those of the general population. It is recommended that if you plan to have children, prenatal testing is best.