Guilder Laura, Prada Carlos E, Saenz Sofia, Jain-Ghai Shailly, Karp Natalya, Mazariegos George, Ratko Suzanne, Salvarinova Ramona, Mercimek-Andrews Saadet
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Division of Human Genetics, Cincinnati, Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Mol Genet Metab Rep. 2021 Apr 28;27:100763. doi: 10.1016/j.ymgmr.2021.100763. eCollection 2021 Jun.
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: , , and Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids are the results. We report hyperleucinosis during intercurrent illnesses in six patients with MSUD post liver transplantation. Patient charts were retrospectively reviewed. Data was entered into an Excel Database. Literature was reviewed. Six patients with MSUD were included who had post liver transplantation hyperleucinosis during an intercurrent illness. Five had encephalopathy. One received hemodialysis for the management of hyperleucinosis. All patients had unrestricted diet. Additionally, there were five patients (one patient included into the current study) reported in the literature. We suggested management considerations for the follow-up of patients with MSUD post liver transplantation after the first episode of unexplained encephalopathy or signs of acute hyperleucinosis during intercurrent illness due to our clinical experience: 1) Healthy: Unrestricted diet and monitoring of leucine levels; 2) Illness: a) home illness management: increased carbohydrate intake b) illness management at hospital: intravenous dextrose, intravenous lipid and daily plasma amino acid monitoring. We report hyperleucinosis and/or encephalopathy as a rare event post liver transplantation in MSUD as a multicenter case series. Hyperleucinosis and/or encephalopathy may occur in both related and unrelated donor liver transplantation. Based on the long-term follow-up of those patients, these suggested management considerations may be revised as per the patients' needs.
枫糖尿症（MSUD）是由三个基因中的双等位基因变异引起的： 、 和 。支链α-酮酸脱氢酶复合物缺乏以及体液中亮氨酸、缬氨酸、异亮氨酸和别异亮氨酸升高是其结果。我们报告了6例肝移植后患有MSUD的患者在并发疾病期间出现高亮氨酸血症。对患者病历进行了回顾性审查。数据录入Excel数据库。查阅了文献。纳入了6例肝移植后在并发疾病期间出现高亮氨酸血症的MSUD患者。5例有脑病。1例接受血液透析以治疗高亮氨酸血症。所有患者饮食不受限制。此外，文献中还报道了5例患者（1例纳入本研究）。根据我们的临床经验，我们建议对肝移植后MSUD患者在首次出现不明原因的脑病或并发疾病期间急性高亮氨酸血症迹象后的随访进行管理考虑：1）健康状态：饮食不受限制并监测亮氨酸水平；2）患病状态：a）家庭疾病管理：增加碳水化合物摄入量；b）医院疾病管理：静脉输注葡萄糖、静脉输注脂质并每日监测血浆氨基酸。我们作为一个多中心病例系列报告了高亮氨酸血症和/或脑病是肝移植后MSUD中罕见的事件。高亮氨酸血症和/或脑病可能发生在相关和非相关供体肝移植中。基于对这些患者的长期随访，这些建议的管理考虑可能会根据患者需求进行修订。
