title: Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: a case report.
abstract: Liver transplantation is an accepted treatment modality in the management of MSUD. To our knowledge, ours is only the second successful case to date of a patient with MSUD receiving an allograft from an RLD who is a heterozygous carrier for the disease. In view of the worldwide shortage of available organs for transplantation, heterozygote to homozygote transplantation in the setting of MSUD may provide a viable alternative for those awaiting transplantation. We report on the case of a two-yr-old infant with MSUD, who received a left lateral segment (segments II and III) liver transplant from his mother, a heterozygote carrier of one of the three abnormal genes implicated in MSUD. Post-operative BCAA levels normalized in our patient and remained so on an unrestricted protein diet and during times of physiological stress. To date, this is only the second case of a successful RLD liver transplant in a child with MSUD. Preliminary results indicate that RLD liver transplants are at least equivalent to deceased donor liver transplants in the treatment of MSUD, although longer term follow-up is required. Heterozygote to homozygote RLD transplant in patients with MSUD presents a new pool of potential liver donors.
authors: Department of Surgery, University of the Witwatersrand, Johannesburg, South Africa.
authors: N
authors: N
authors: Patel
authors: J
authors: J
authors: Loveland
authors: M
authors: M
authors: Zuckerman
authors: P
authors: P
authors: Moshesh
authors: R
authors: R
authors: Britz
authors: J
authors: J
authors: Botha
mesh_terms: D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008297:Male; D008375:Maple Syrup Urine Disease / Q000235:genetics* / Q000601:surgery*; D009035:Mothers; D014184:Transplantation, Homologous; D016896:Treatment Outcome
keywords: liver; liver transplantation; living donor