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

Peter J. Mc Guire, Elizabeth Lim-Melia, George A. Diaz, Kimiyo Raymond, Alexandra Larkin, Melissa P. Wasserstein, Claude Sansaricq

Research output: Contribution to journalArticle

39 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)22-29
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number1
StatePublished - Jan 1 2008
Externally publishedYes



  • Immunosuppression
  • Kidney transplantation
  • Liver transplantation
  • Metabolic stroke
  • Methylmalonic aciduria
  • Neurologic complications

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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