As discussed by the National Organization for Rare Disorders (NORD) MSUD is caused by an autosomal recessive mutation, indicating that the …show more content…
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)