Maple Syrup Urine Disease

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The Maple Syrup Urine Disease (MSUD) is a very interesting, and unusual disease. This disease is genetic-based, since certain genes are mutated. There have been some prevention methods put up, and diagnosis has become easier over the past years. There can be also genetic counseling to see if the parents have the genes for it. MSUD is based on the buildup of amino acids that the body can’t break down and it collects in the urine, plasma, and everywhere else fluid is stored. The substance is called ketoacid. When ketoacid is built up, this is called ketoacidosis. This all happens because the body’s enzyme that break down three of the eleven essential amino acids, leucine, isoleucine, and valine, is altered, or parts of the enzyme are not working. This is what causes the buildup of amino acids (Adrian 774). In her 2010 article, “Maple Syrup Urine Disease,” in “Genetics and Inherited Conditions,” Jane Adrian explains that there are 4 genes involved. They help encode for specific proteins. The genes are BCKDHA, BCKDHB, DBT, and DLD. These proteins consist of three catalysts and two regulatory enzymes . If the enzymes that are made from these genes are faulty, then the amino acids can’t break down. This is what causes MSUD. The severity is based on levels, classic, intermediate, intermittent, and thiamine-responsive. (Adrian, 774). Classic symptoms include burnt maple syrup odors, poor feeding, irritability, lethargy, opisthotonus, focal dystonia, and "fencing," or "bicycling". “Fencing” or “bicycling” is just the movement of the arms or legs in that fashion. Intermediate symptoms are burnt maple syrup odors. poor growth, poor feeding, irritability, developmental delays, and encephalopathy during illness. Intermittent symptoms are episodic decompensations that can be severe. Other than that, babies that are classified as intermittent or thiamine-responsive are

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