Maple Syrup Urine Disease is an inherited disorder that is a result of a genetic mutation. It is extremely rare, occurring in one in 185,000 births. In this condition, the body is unable to process amino acids, leading to a buildup of toxic levels of the substances in the body. Symptoms of the disease include a distinctive sweet odor in the urine that gives the disorder its name. Other indications are developmental defects, vomiting, poor feeding and lack of energy. Without treatment, the condition can lead to coma and other fatalities.
HOW IS MAPLE SYRUP URINE DISEASE DIAGNOSED?
Maple Syrup Urine Disease (MSUD) can be broadly divided into 4 types- Classic MSUD, Intermittent MSUD, Intermediate MSUD and Thiamine-responsive MSUD.