Since we have a Web site, we hear about persons with MSUD from all over the world and have been able to help them in various ways. Several recent countries we have heard from are Brazil, South Korea, New Zealand and Israel. It is so sad that children with MSUD die undiagnosed or are critically ill before being diagnosed in many countries.
What rationale is there for this still happening in the United States? Every state has a newborn screening program for at least PKU. At very little additional cost, all newborns could be screened for MSUD as well as a number of other diseases. In May of this year, a child was in the hospital in Florida for two weeks in critical condition until diagnosed at four weeks of age with classic MSUD. This should not happen. This issue needs to be addressed. If you are interested in helping, contact Sandy Bulcher (see more information and how to contact Sandy under NEWBORN SCREENING COALITION at the beginning of this issue).