Maple syrup urine disease (MSUD) is a rare genetic disorder that affects the body's ability to break down certain amino acids found in protein. It is named after the distinctive sweet odor of affected infants' urine, which smells like maple syrup.
The prevalence of MSUD varies among different populations. In general, it is considered to be a very rare condition. The exact prevalence is difficult to determine due to the lack of comprehensive data and the fact that it is often underdiagnosed or misdiagnosed. However, it is estimated that MSUD affects approximately 1 in every 185,000 to 225,000 live births worldwide.
MSUD is more commonly observed in certain ethnic groups, such as Mennonites, Amish, and some Jewish populations. In these communities, the prevalence can be higher due to a higher frequency of the gene mutations associated with the disorder.
Early diagnosis and treatment are crucial for individuals with MSUD to prevent serious complications. A specialized diet low in certain amino acids is the mainstay of management, which helps to control the levels of these amino acids in the body and minimize the risk of metabolic crises.