Tuesday, May 17, 2016
Maple Syrup Urine Disease is more than just a silly name for something that makes your urine have a sweet odorous smell, it is a rare congenital disease that affects roughly one in two hundred thousand people. However, disease is much more common in Mennonite populations, the frequency of the mutations being around one in one thousand. It is generally detected and diagnosed within the first three days of a babies life, through a heel stick blood test. The urine of affected people is a result of a mutation in the branched chain alpha-keto acid dehydrogenase complex that makes the body unable to process certain amino acids. Other symptoms of this disease include lethargy, vomiting. If it goes untreated, people suffering from MSUD can experience comas, seizures and often death. The links provided should reveal
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