Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience
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Maple syrup urine disease (MSUD; OMIM 248600) is an autosomal recessive disorder characterized by impaired activity of the branched-chain alpha-keto acid dehydrogenase complex. The resulting accumulated branched-chain L-amino acids (BCAAs) and alpha-keto acids exert neurotoxic effects. The clinical course is typically punctuated by episodes of ketoacidosis, each potentially life-threatening. Medical therapy is limited to dietary management with strictly reduced quantities of protein and BCAAs as well as aggressive intervention during acute episodes, which can significantly impair quality of life. The specific aim of this study is to assess clinical and neurocognitive function in children who have undergone liver transplantation for classical MSUD.