title: Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease.
abstract: Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body. Even when aggressively treated with dietary restriction of BCAA, patients experience long term cognitive, neurological and psychosocial problems. Liver transplantation from deceased donors has been shown to be an effective modality in introducing adequate BCKAD activity, attaining a metabolic cure for patients. Here, we report the clinical course of the first known patient with classic MSUD who received two consecutive partial liver grafts from two different living non-carrier donors and his five year outcome posttransplant. We also show that despite the failure of the first liver graft, and initial acute cellular rejection of the second liver graft in our patient, his metabolic control remained good without metabolic decompensation.
authors.affiliation: Department of Paediatrics, National University Hospital, National University Health Systems, Singapore.
authors.forename: H L
authors.initials: HL
authors.lastname: Chin
authors.affiliation: Department of Paediatrics, National University Hospital, National University Health Systems, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: M M
authors.initials: MM
authors.lastname: Aw
authors.affiliation: Department of Paediatrics, National University Hospital, National University Health Systems, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: S H
authors.initials: SH
authors.lastname: Quak
authors.affiliation: Department of Paediatrics, National University Hospital, National University Health Systems, Singapore.
authors.forename: J
authors.initials: J
authors.lastname: Huang
authors.affiliation: Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore.
authors.forename: C E
authors.initials: CE
authors.lastname: Hart
authors.affiliation: Department of Paediatric Surgery, National University Hospital, National University Health Systems, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Paediatric Solid Organ Transplantation, National University Hospital, National University Health Systems, Singapore.
authors.forename: K
authors.initials: K
authors.lastname: Prabhakaran
authors.affiliation: Department of Paediatrics, National University Hospital, National University Health Systems, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: D L
authors.initials: DL
authors.lastname: Goh
keywords: BCKAD, branched chain ketoacid dehydrogenase; Liver transplant; MSUD, maple syrup urine disease; Maple syrup urine disease; Metabolic control