Оригинал
Depending on your insurance, you may need to go to your primary care doctor for a referral to a geneticist. A geneticist is a genetic specialist that deals with diseases like MSUD.
in the US, babies are given a newborn screening that typically tests for MSUD. There is also an amino acid blood panel that can be done to check the levels of Leucine, Isoleucine, and Valine.