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Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Peter J PJ Mc Guire, Elizabeth E Lim-Melia, George A GA Diaz, Kimiyo K Raymond, Alexandra A Larkin, Melissa P MP Wasserstein, and Claude C Sansaricq

Mol Genet Metab 93(1):8 (2008) PMID 17964841

Over 27 cases of liver transplant, kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed.

Copyright © 2008 Elsevier Ltd. All rights reserved.

DOI: 10.1016/j.ymgme.2007.08.119
Version: za2963e q8za0 q8zbd q8zcf q8zd2 q8zea q8zf8 q8zg9
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