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Renal transplantation in a patient with methylmalonic acidaemia

  • Published:
Journal of Inherited Metabolic Disease

Abstract

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.

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Authors and Affiliations

  1. Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

    S. C. Van Calcar, C. O. Harding, P. Lyne & J. A. Wolff

  2. Department of Pediatrics, University of Wisconsin School of Medicine, Madison, Wisconsin, USA

    C. O. Harding & J. A. Wolff

  3. Department of Anesthesiology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA

    K. Hogan

  4. Department of Biochemistry, University of Nebraska, Lincoln, Nebraska, USA

    R. Banerjee

  5. Department of Medicine, University of Wisconsin School of Medicine, Madison, Wisconsin, USA

    H. Sollinger & R. E. Rieselbach

  6. Department of Surgery, University of Wisconsin School of Medicine, Madison, Wisconsin, USA

    H. Sollinger

Authors
  1. S. C. Van Calcar
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  2. C. O. Harding
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  3. P. Lyne
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  4. K. Hogan
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  5. R. Banerjee
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  6. H. Sollinger
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  7. R. E. Rieselbach
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  8. J. A. Wolff
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Van Calcar, S.C., Harding, C.O., Lyne, P. et al. Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21, 729–737 (1998). https://doi.org/10.1023/A:1005493015489

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  • DOI: https://doi.org/10.1023/A:1005493015489

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