Renal transplantation in a patient with methylmalonic acidaemia

S. C. Van Calcar, C. O. Harding, P. Lyne, K. Hogan, R. Banerjee, H. Sollinger, R. E. Rieselbach, J. A. Wolff

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.

Original languageEnglish (US)
Pages (from-to)729-737
Number of pages9
JournalJournal of inherited metabolic disease
Issue number7
StatePublished - 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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