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

38 Citations (Scopus)

Abstract

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
Volume93
Issue number1
DOIs
StatePublished - Jan 2008
Externally publishedYes

Fingerprint

Transplants
Liver
Kidney
Stroke
Interstitial Nephritis
Pancreatic Diseases
Acidosis
Chronic Renal Insufficiency
Nervous System
Deterioration
Methylmalonic acidemia
Liver Diseases
Hospitalization
History
Quality of Life
Urine
Therapeutics
Serum

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Combined liver-kidney transplant for the management of methylmalonic aciduria : A case report and review of the literature. / Mc Guire, Peter J.; Lim-Melia, Elizabeth; Diaz, George A.; Raymond, Kimiyo; Larkin, Alexandra; Wasserstein, Melissa P.; Sansaricq, Claude.

In: Molecular Genetics and Metabolism, Vol. 93, No. 1, 01.2008, p. 22-29.

Research output: Contribution to journalArticle

Mc Guire, Peter J. ; Lim-Melia, Elizabeth ; Diaz, George A. ; Raymond, Kimiyo ; Larkin, Alexandra ; Wasserstein, Melissa P. ; Sansaricq, Claude. / Combined liver-kidney transplant for the management of methylmalonic aciduria : A case report and review of the literature. In: Molecular Genetics and Metabolism. 2008 ; Vol. 93, No. 1. pp. 22-29.
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