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.
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Authors | N Patel, J Loveland, M Zuckerman, P Moshesh, R Britz, J Botha |
Journal | Pediatric transplantation
(Pediatr Transplant)
Vol. 19
Issue 3
Pg. E62-5
(May 2015)
ISSN: 1399-3046 [Electronic] Denmark |
PMID | 25677046
(Publication Type: Case Reports, Journal Article)
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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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