Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Molecular Genetics and Metabolism Reports

Shailly Jain-Ghai¹  Ramona Salvarinova²  Laura Guilder³  Saadet Mercimek-Andrews³  Sofia Saenz⁴  Carlos E. Prada⁴  George Mazariegos⁵  Suzanne Ratko⁶  Natalya Karp⁶ 

[1] Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, Alberta, Canada;Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital, BC Children's Hospital Research Institute, Vancouver, Canada;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;Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, Division of Pediatric Transplantation, Department of Surgery, Pittsburgh, PA, USA;Metabolic Genetics, Western University, Department of Pediatrics, Children's Hospital-London Health Sciences Centre, London, Ontario, Canada;

关键词: Maple syrup urine disease;    Liver transplantation;    Hyperleucinosis;    Branched chain amino acids;   

DOI  :  

来源: DOAJ

【 摘 要 】

Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. 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.

【 授权许可】

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