Patient's question:
Doctor, what is the pass rate for phenylketonuria re-examination in infants? The first test was a blood test, with elevated indicators, 6, 7, re-examination, but the results still need to wait a week. I'd like to understand a few things. There is no history of this type of intellectual disability in my family. Will the re-examination pass?Doctor's answer:
If there is a family history, the chances of passing it down are not high. The key is to find the cause and treat it accordingly. The earlier the treatment, the better the outcome. The main goal is to prevent irreversible damage to the nervous system. The main approach is to use phenylalanine formula. As the baby grows older, low-phenylalanine diet can be gradually introduced. It is also essential to regularly check phenylalanine levels, at least until puberty. Lifelong treatment would be even better.