Pediatric Nephrology

, Volume 22, Issue 8, pp 1209–1214

Renal transplant in methylmalonic acidemia: could it be the best option?

Report on a case at 10 years and review of the literature
  • Riccardo Lubrano
  • Marco Elli
  • Massimo Rossi
  • Elisabetta Travasso
  • Claudia Raggi
  • Paola Barsotti
  • Claudia Carducci
  • Pasquale Berloco
Brief Report

DOI: 10.1007/s00467-007-0460-z

Cite this article as:
Lubrano, R., Elli, M., Rossi, M. et al. Pediatr Nephrol (2007) 22: 1209. doi:10.1007/s00467-007-0460-z

Abstract

Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism. Patients with severe disease develop many complications despite treatment; often, the disease progresses to severe damage of the central nervous system or to end-stage renal disease (ESRD). When medical treatment is ineffective, liver, kidney, or combined liver and kidney transplantation is advocated. At present, there are no definite guidelines as for the organ to be transplanted, and results are inconsistent. We report on a 27-year-old woman with MMA MUT0. The clinical symptoms developed at age 4 months. She progressed to ESRD and received a kidney transplant in November 1996 at age 17 years. One hundred and twenty months after transplant, renal function is normal; although urinary levels of methylmalonic acid are above normal limits, no episodes of metabolic decompensation have been observed after transplantation. Although liver is the major site of methylmalonyl-CoA mutase activity, this case and similar ones in the literature suggest that the smaller mutase activity present in the transplanted kidney may be sufficient to ensure partial correction of the metabolism of organic acids sufficient to prevent the onset of episodes of metabolic decompensation. It is worth investigating whether kidney transplant can be a safer and more satisfactory alternative to liver transplantation in cases of MMA unresponsive to medical treatment although urine MMA excretion remains significantly elevated.

Keywords

Methylmalonic acidemia Kidney transplant Liver transplant Kidney–liver transplant 

Copyright information

© IPNA 2007

Authors and Affiliations

  • Riccardo Lubrano
    • 1
  • Marco Elli
    • 2
  • Massimo Rossi
    • 3
  • Elisabetta Travasso
    • 1
  • Claudia Raggi
    • 1
  • Paola Barsotti
    • 4
  • Claudia Carducci
    • 4
  • Pasquale Berloco
    • 3
  1. 1.Dipartimento di PediatriaUniversità degli Studi di Roma “La Sapienza”RomeItaly
  2. 2.Dipartimento di Scienze Cliniche “Osp. Luigi Sacco”Università degli Studi di MilanoMilanItaly
  3. 3.Dipartimento Chirugia Generale e Trapianti “Paride Stefanini”Università degli Studi di Roma “la Sapienza”RomeItaly
  4. 4.Dipartimento di Medicina Sperimentale e PatologiaUniversità degli Studi di Roma “La Sapienza”RomeItaly

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