Mohan N, Karkra S, Rastogi A, Vohra V, Soin A S
Department of Pediatric Gastroenterology, Hepatology and Liver transplantation, Medanta The Medicity, Gurgaon, Haryana, India.
Institute of Liver Transplant and Regenerative Medicine, Medanta The Medicity, Gurgaon, Haryana, India.
Pediatr Transplant. 2016 May;20(3):395-400. doi: 10.1111/petr.12666. Epub 2016 Feb 12.
MSUD occurs due to deficiency of enzyme BCKAD required for metabolism of leucine, isoleucine, and valine leading to the accumulation of these and their ketoacids causing acute metabolic decompensation manifesting as encephalopathy or sudden death. The patient requires special protein-restricted diet to survive. As this enzyme is expressed in liver, liver transplantation has been successfully performed as a cure. We report two patients of MSUD who underwent LDLT while their livers were used as a domino graft for other biliary cirrhotic patients. A 22-month-old male child diagnosed as a case of classic MSUD underwent LDLT from an altruistic aunt as donor following which his serum leucine levels normalized on an unrestricted protein diet. His liver was used as a domino graft. A 38-month-old female child with diagnosed MSUD underwent LDLT from a swap donor, and her liver was used as a domino graft. Her DQ improved post-transplant. LDLT from non-heterozygous donors is a cure for classical MSUD. Their livers can be used as domino grafts for non-MSUD cases.
枫糖尿症（MSUD）是由于亮氨酸、异亮氨酸和缬氨酸代谢所需的支链α-酮酸脱氢酶（BCKAD）缺乏所致，导致这些氨基酸及其酮酸蓄积，引起急性代谢失代偿，表现为脑病或猝死。患者需要特殊的蛋白质限制饮食才能存活。由于这种酶在肝脏中表达，肝移植已成功用于治疗。我们报告了两名MSUD患者，他们接受了活体肝移植（LDLT），而他们的肝脏被用作多米诺骨牌式移植物用于其他胆汁性肝硬化患者。一名22个月大的男童被诊断为典型的MSUD，接受了来自一位利他性阿姨的活体肝移植，术后他在无蛋白质限制饮食的情况下血清亮氨酸水平恢复正常。他的肝脏被用作多米诺骨牌式移植物。一名38个月大的女童被诊断为MSUD，接受了交换供体的活体肝移植，她的肝脏也被用作多米诺骨牌式移植物。移植后她的供体特异性抗体（DQ）有所改善。来自非杂合供体的活体肝移植是治疗典型MSUD的方法。他们的肝脏可作为多米诺骨牌式移植物用于非MSUD病例。
