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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.
AuthorsN Patel, J Loveland, M Zuckerman, P Moshesh, R Britz, J Botha
JournalPediatric transplantation (Pediatr Transplant) Vol. 19 Issue 3 Pg. E62-5 (May 2015) ISSN: 1399-3046 [Electronic] Denmark
PMID25677046 (Publication Type: Case Reports, Journal Article)
Copyright© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Topics
  • Child, Preschool
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Liver Transplantation (methods)
  • Living Donors
  • Male
  • Maple Syrup Urine Disease (genetics, surgery)
  • Mothers
  • Transplantation, Homologous
  • Treatment Outcome

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