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


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.


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.


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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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