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Maple Syrp Disease

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Maple Syrup Urine Disease is a potently fatal disorder which affects the body’s ability of breaking down three Branched chain amino acids: isoleucine, leucine and valine. The inability of breaking down the three-branched amino acid chain is due to defect in an enzyme called branched chain alpha ketoacid dehydrogenase. Which is the enzyme responsible for breaking down isoleucine, leucine and valine. This will result in high levels of the branched amino acids in plasma and alpha ketoacid in urine. The presence of alpha ketoacid in urine will result in a burned maple syrup odder. Hence the name, Maple syrup urine disease (MSUD). Maple Syrup disease is inherited in an autosomal recessive pattern. Both of the parents have to be a carrier of the
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