Www.msud-support.org The information presented on this web site is for educational purposes. It does not replace medical consultation. The MSUD (Maple Syrup Urine Disease) Family Support Group is not liable for the application of this information or any errors therein. Symposium 2002 to be held in Ann Arbor, Michigan, July 10-13, 2002 at the Ann Arbor Crowne Plaza Hotel.......Click HERE for ...

Maple Syrup Urine Disease - Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in the infant who is not treated for MSUD. Early diagnosis and ...

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