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Maple Syrup Urine Disease
Condition Overview: Maple Syrup Urine Disease (MSUD) is an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat. It is a serious disorder that, unless treated promptly and correctly, can be life threatening. Therapy must be started at the earliest possible age to achieve the best results. MSUD is manageable, just as diabetes is manageable, but care and attention must be given to diet and to the treatment of even minor illnesses.Symptoms develop because the body is unable to break down (metabolize) three of the essential amino acids, leucine, isoleucine, and valine. They are essential because they are used by the body to build proteins, and they are three of 11 amino acids that must be obtained as part of the daily diet since the body cannot synthesize them. These three amino aids share a common characteristic of chemical structure and are thus known as the branched chain amino acids (BCAAs). An affected newborn will present with abnormally high concentrations of acidic metabolic by-products of the BCAAs in the blood and other tissues (metabolic acidosis) that, if left untreated, may lead to seizures or coma, and may be life-threatening. Genetically, there appear to be three forms of the disorder: IA, IB, and II. Clinically, at least four forms are described, to which some clinicians add a fifth. . |
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