Patient's question:
When the baby was 30 days old, it was found that they might have phenylketonuria. Currently, we are undergoing a re-examination to carefully check the hospital's standard value is 2.0, and my child's result is exactly 2.0, which is between normal and abnormal. Therefore, we are very worried about getting this disease. If the phenylketonuria index is 2, is it considered normal?What kind of help is needed: Is a phenylketonuria index of 2 normal?
Doctor's answer:
Phenylketonuria (PKU) is a congenital inherited metabolic disease caused by a deficiency in the enzyme of the phenylalanine (PA) catabolic pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large quantities in the urine. If detected early and treated with intervention, the prognosis is very good. Although it cannot be cured, it can prevent the recurrence of brain damage in the child.