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Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

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Abstract

Renal tubular dysfunction and chronic renal failure are well recognised complications of methylmalonic acidaemia (MMA) and can occur even in the context of optimal medical metabolic management. Organ transplantation, such as renal and combined liver and renal transplants, have been utilised in the past for children whose disease cannot be managed by conservative medical practices and those with end stage renal disease. Our patient was diagnosed with B12-responsive MMA (subsequently proven to be cblA-type MMA) in the postoperative period following renal transplantation for idiopathic chronic renal failure. She remains well, with excellent graft function and metabolic control 4 years after transplantation. This patient highlights the importance of testing for the inborn errors of metabolism in patients presenting with recurrent acidosis and progressive renal impairment.

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References

  1. Fenton WA, Gravel RA, Rosenblatt DS (2001) The metabolic and molecular bases of inherited disease, 8th edn McGraw-Hill, New York, pp 2165–2193

  2. Nicolaides P, Leonard J, Surtees R (1998) Neurological outcome of methylmalonic acidaemia. Arch Dis Child 78:508–512

    PubMed  Google Scholar 

  3. Horster F, Hoffmann GF (2004) Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 19:1071–1074

    PubMed  Google Scholar 

  4. Dobson SM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A 99 24:15554–15559

    Article  Google Scholar 

  5. Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Dore C, Lepage P, Gravel RA, Rosenblatt DS (2004) Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat 24:509–516

    Article  PubMed  Google Scholar 

  6. Baumagarter ER, Viardot C and 47 colleagues from 39 hospitals from 7 European countries (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138–142

    Article  PubMed  Google Scholar 

  7. van’t Hoff W, McKiernan PJ, Surtees RA, Leonard JV (1999) Liver transplant for methylmalonic acidaemia. Eur J Pediatr 158 [Suppl 2]:S70–S74

    Google Scholar 

  8. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL (1989) Metabolic correlates of learning disability. Birth Defects Orig Artic Ser 25:153–169

    PubMed  Google Scholar 

  9. Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA (2001) Kidney transplant in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 16:848–851

    Article  PubMed  Google Scholar 

  10. Walter JH, Michalski A, Wilson MW, Leonard JV, Barratt TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148:334–348

    Article  Google Scholar 

  11. Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suziki Y, Sakura N, Takayanagi, Iinuma, Ohaura T (2004) Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Mol Genet Metab 82:329–333

    Article  PubMed  Google Scholar 

  12. Chan JCM (1983) Renal tubular acidosis. J Pediatr 102 3:327–340

    Google Scholar 

  13. Patrick A, Camerson JS, Ogg CS (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. Clin Nephrol 16 6:289–292

    Google Scholar 

  14. Molteni KH, Oberley TD, Wolff JA, Friedman AL (1991) Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 5:323–326

    Article  PubMed  Google Scholar 

  15. Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstitial nephritis in methylmalonic acidaemia. Pediatr Nephrol 7:81–82

    Article  PubMed  Google Scholar 

  16. D’Angio CT, Dillon MJ, Leonard JV (1991) Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 150:259–263

    Article  PubMed  Google Scholar 

  17. Harrison HE, Harrsion HC (1954) Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. Science 120:606–608

    PubMed  Google Scholar 

  18. Arend LJ, Thompson CI, Brandt MA, Spieman WS (1986) Elevation of intrarenal adenosine by maleic acid decreases GFR and renin release. Kidney Int 30:656–661

    PubMed  Google Scholar 

  19. Kolker S, Schwab M, Horster F, Sauer S, Hinz A, Wolf N, Mayatepek E, Hoffmann GF, Smeitink JAM, Okun JG (2003) Methylmalonic acid: a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278 48:47388–47393

    Article  Google Scholar 

  20. Okun JG, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kolker S (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277 17:14674–14680

    Google Scholar 

  21. Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee, Sollinger H, Rieselbach RE, Wolff JA (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21:729–737

    Article  PubMed  Google Scholar 

  22. Broyer M, Guersy P, Burgess EA, Charpentier C, Lemonnier A (1974) Acidemie methyl malonique avec nephropathie hyperuricemique. Arch Fr Pediatr 31:543–552

    PubMed  Google Scholar 

  23. Schmitt CP, Mehls O, Trefz FK, Horster F, Weber TL, Kolker S (2004) Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol 19:1182–1184

    PubMed  Google Scholar 

  24. Leonard JV, Walter JH, McKiernan PJ (2001) The management of organic acidaemias: The role of transplantation. J Inherit Metab Dis 24:309–311

    Article  PubMed  Google Scholar 

  25. Hyndman ME, Manns BJ, Snyder FF, Bridge PJ, Scott-Douglas NW, Fun E, Parsons HG (2003) Vitamin B12 decreases, but does not normalize, homocysteine and methylmalonic acid in end-stage renal disease: a link with glycine metabolism and possible explanation of hyperhomocysteinemia in end-stage renal disease. Metabolism 52:168–172

    Article  PubMed  Google Scholar 

  26. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R (2002) Progressive neurological disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161:377–379

    Article  PubMed  Google Scholar 

  27. Paik KH, Lee JE, Jin DK (2004) Successful dialysis in a boy with methylmalonic acidemia. Pediatr Nephrol 19:1180–1181

    Article  PubMed  Google Scholar 

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Acknowledgments

Dr. Coman is supported by The Cressbrook Committee of The Royal Children’s Hospital Foundation. Dr. O. Sakamoto and Dr. T. Ohura kindly performed MMAA and MMAB genotyping.

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Authors and Affiliations

  1. Department of Metabolic Medicine, The Royal Children’s Hospital, Brisbane, Australia

    D. Coman & J. McGill

  2. Queensland Child and Adolescent Renal Service, Royal Children’s and Mater Children’s Hospitals, Renal Unit, Princess Alexandra Hospital, Brisbane, Australia

    J. Huang, S. McTaggart & J. Burke

  3. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

    O. Sakamoto & T. Ohura

  4. The Royal Children’s Hospital, Herston Road, Herston, 4029, Brisbane, Australia

    J. Burke

Authors
  1. D. Coman
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  2. J. Huang
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  3. S. McTaggart
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  4. O. Sakamoto
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  5. T. Ohura
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  6. J. McGill
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  7. J. Burke
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Corresponding author

Correspondence to J. Burke.

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Coman, D., Huang, J., McTaggart, S. et al. Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatr Nephrol 21, 270–273 (2006). https://doi.org/10.1007/s00467-005-2071-x

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  • DOI: https://doi.org/10.1007/s00467-005-2071-x

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