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Journal of Inherited Metabolic Disease

, Volume 34, Issue 3, pp 695–700 | Cite as

Renal transplantation in a boy with methylmalonic acidaemia

  • Joanna Clare Clothier
  • Anupam Chakrapani
  • Mary-Anne Preece
  • Patrick McKiernan
  • Rajat Gupta
  • Anita Macdonald
  • Sally-Anne Hulton
Original Article

Abstract

We present the first reported case of B12 non-responsive methylmalonic acidaemia due to MMAB mutation to undergo an isolated renal transplant for renal failure. At 8 years of age he was listed for a combined liver and kidney transplant following progressive renal impairment. His metabolic control deteriorated with declining renal function and he was commenced on haemodialysis, leading to marked symptomatic and biochemical improvement. He was therefore relisted for isolated cadaveric renal transplant instead. He underwent successful renal transplantation at 12 years of age and now 6 years post transplant he is enjoying a more normal lifestyle with a marked reduction in plasma methylmalonate.

Keywords

Plasma Creatinine Methylmalonic Methylmalonic Acid Metabolic Decompensation Chronic Renal Impairment 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Baumgarter ER, Viardot C (1995) Long term follow up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138–142PubMedCrossRefGoogle Scholar
  2. Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidaemia five years after liver transplantation. J Pediatr 140:261–263PubMedCrossRefGoogle Scholar
  3. Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP (2009) Mitochondrial dysfunction in mut methylmalonic academia. FASEB J 23:1252–1261PubMedCrossRefGoogle Scholar
  4. Coman D, Huang J, McTaggart S, Sakamoto O, Ohura T, McGill J, Burke J (2006) Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA type methylmalonic academia. Pediatr Nephrol 21:270–273PubMedCrossRefGoogle Scholar
  5. Dobson CM, Wai T, Leclerc D et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet 11(26):3361–3369PubMedCrossRefGoogle Scholar
  6. Fowler B, Leonard JV, Baumgartner MR (2008) Cause of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 31:350–360PubMedCrossRefGoogle Scholar
  7. Hörster F, Hoffmann GF (2004) Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 19:1071–1074PubMedCrossRefGoogle Scholar
  8. Hörster F, Baumgartner MR, Viardot C et al. (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, clbA, clbB). Pediatr Res 62:225–230PubMedCrossRefGoogle Scholar
  9. Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonic-CoA mutase deficiency. Mol Genet Metab 88:322–326PubMedCrossRefGoogle Scholar
  10. Leonard JV, Walter JH, McKiernan PJ (2001) The management of organic acidaemias: the role of transplantation. J Inherit Metab Dis 24:309–311PubMedCrossRefGoogle Scholar
  11. Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA (2001) Kidney transplantation in a girl with methylmalonic academia and end stage renal failure. Pediatr Nephrol 16:848–851PubMedCrossRefGoogle Scholar
  12. Lubrano R, Elli M, Rossi M et al. (2007) Renal transplant in methylmalonic academia: could it be the best option? Report on a case at 10 years and review of the literature. Pediatr Nephrol 22:1209–1214PubMedCrossRefGoogle Scholar
  13. McGuire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C (2008) Combined liver-kidney transplantation for management of methylmalonic aciduria:a case report and review of the literature. Mol Genet Metab 93:22–29CrossRefGoogle Scholar
  14. Mirandola SR, Melo DR, Schuck PF, Ferreira GC, Wajner M, Castilho RF (2008) Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake. J Inherit Metab Dis 31(1):44–54PubMedCrossRefGoogle Scholar
  15. Morath MA, Okun JG, Müller IB, Sauer SW, Hörster F, Hoffmann GF, Kölker S (2008) Neurodegeneration and chronic renal failure in methylmalonic aciduria – a pathophysiological approach. J Inherit Metab Dis 31(1):35–43PubMedCrossRefGoogle Scholar
  16. Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A (2007) Efficacy of living donor liver transplantation for patients with methylmalonic academia. Am J Transplant 7:2782–2787PubMedCrossRefGoogle Scholar
  17. Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM (2005) Management of methymalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis 28:517–524PubMedCrossRefGoogle Scholar
  18. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R (2002) Progressive neurological disability in methylmalonic acidaemia despite transplantation of the liver. Eur J Pediatr 161:377–379PubMedCrossRefGoogle Scholar
  19. Ogier de Baulny H, Saudubray JM (2002) Branched chain organic acidurias. Semin Neonatol 7:65–74PubMedCrossRefGoogle Scholar
  20. Ogier de Baulny H, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM (2005) Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28:415–423PubMedCrossRefGoogle Scholar
  21. Paik KH, Lee JE, Jin D-K (2004) Successful dialysis in a boy with methylmalonic academia. Pediatr Nephrol 19:1180–1181PubMedCrossRefGoogle Scholar
  22. Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstial nephritis in methylmalonic acidaemia. Pediatr Nephrol 7:81–82PubMedCrossRefGoogle Scholar
  23. Van Calcar SC, Harding CO, Lyne P et al. (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21:729–737PubMedCrossRefGoogle Scholar
  24. Van’t Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV (1998) Combined liverkidney transplantation in methylmalonic academia. J Pediatr 132:1043–1044CrossRefGoogle Scholar
  25. Van’t Hoff WG, McKiernan PJ, Surtees RAH, Leonard JV (1999) Liver transplantation for methylmalonic acidaemia. Eur J Pediatr 158:S70–S74PubMedCrossRefGoogle Scholar
  26. Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148:344–348PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Joanna Clare Clothier
    • 1
  • Anupam Chakrapani
    • 2
  • Mary-Anne Preece
    • 2
  • Patrick McKiernan
    • 3
  • Rajat Gupta
    • 4
  • Anita Macdonald
    • 2
  • Sally-Anne Hulton
    • 1
  1. 1.Department of Paediatric NephrologyBirmingham Children’s Hospital NHS Foundation TrustBirminghamUK
  2. 2.Department of Paediatric Inherited Metabolic DiseaseBirmingham Children’s Hospital NHS Foundation TrustBirminghamUK
  3. 3.Department of Paediatric HepatologyBirmingham Children’s Hospital NHS Foundation TrustBirminghamUK
  4. 4.Department of Paediatric NeurologyBirmingham Children’s Hospital NHS Foundation TrustBirminghamUK

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