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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baumgarter ER, Viardot C (1995) Long term follow up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138–142
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidaemia five years after liver transplantation. J Pediatr 140:261–263
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP (2009) Mitochondrial dysfunction in mut methylmalonic academia. FASEB J 23:1252–1261
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 21:270–273
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):3361–3369
Fowler B, Leonard JV, Baumgartner MR (2008) Cause of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 31:350–360
Hörster F, Hoffmann GF (2004) Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 19:1071–1074
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 62:225–230
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 88:322–326
Leonard JV, Walter JH, McKiernan PJ (2001) The management of organic acidaemias: the role of transplantation. J Inherit Metab Dis 24:309–311
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 16:848–851
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 22:1209–1214
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 93:22–29
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):44–54
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):35–43
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 7:2782–2787
Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM (2005) Management of methymalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis 28:517–524
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 161:377–379
Ogier de Baulny H, Saudubray JM (2002) Branched chain organic acidurias. Semin Neonatol 7:65–74
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 28:415–423
Paik KH, Lee JE, Jin D-K (2004) Successful dialysis in a boy with methylmalonic academia. Pediatr Nephrol 19:1180–1181
Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstial nephritis in methylmalonic acidaemia. Pediatr Nephrol 7:81–82
Van Calcar SC, Harding CO, Lyne P et al. (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21:729–737
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 132:1043–1044
Van’t Hoff WG, McKiernan PJ, Surtees RAH, Leonard JV (1999) Liver transplantation for methylmalonic acidaemia. Eur J Pediatr 158:S70–S74
Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148:344–348
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicated by: Gerard T. Berry
Competing interest
None declared.
Rights and permissions
About this article
Cite this article
Clothier, J.C., Chakrapani, A., Preece, MA. et al. Renal transplantation in a boy with methylmalonic acidaemia. J Inherit Metab Dis 34, 695–700 (2011). https://doi.org/10.1007/s10545-011-9303-y
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10545-011-9303-y