Maple Syrup Urine Disease Case Study

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Inborn errors of metabolism are a group of rare disorders characterized by metabolic pathway abnormalities. One such disorder is Maple Syrup Urine Disease (MSUD) otherwise known as Branched-chain Ketoaciduria, a dangerous condition in which over saturation of amino acids in the blood can lead to toxicity progressing to encephalopathy, neurodegeneration, coma or respiratory failure (Haldeman-Englert, 2015). MSUD results from a malfunction of the branched-chain alpha-ketoacid dehydrogenase complex (BCKD) (Kniffin, 2013). This complex produces enzymes necessary for the proper breakdown of common amino acids such as valine, leucine, and isoleucine, are found most abundantly in protein rich foods (Strauss et. al, 2013). When the aforementioned amino acids are not broken down they remain in the blood along with their keto acids leading to acidemia (Strauss et. al, 2013).
As discussed by the National Organization for Rare Disorders (NORD) MSUD is caused by an autosomal recessive mutation, indicating that the
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A liver transplant permanently reverses any inability to digest BCAAs, allowing the patient to eat a regular diet and negates the risk of metabolic crisis (Kadohisa et al., 2015; Strauss et al., 2013). However, given the extensive side effects of liver transplants and the success rate of using dietary therapy, liver transplants are generally done in the more severe cases such as classic MSUD (“Maple Syrup Urine Disease”, 2015). Patients receiving these transplant will remain on immunosuppressants for the rest of their lives placing them at risk for other health issues such as infection. Although a liver transplant will prevents further neurological damage it will not reverse damage that occurred during past episodes of uncontrolled MSUD (NORD, 2007, “Maple Syrup Urine Disease”, 2015; Strauss et al., 2013)

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