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Renal transplantation in a boy with methylmalonic acidaemia
Author(s) -
Clothier Joanna Clare,
Chakrapani Anupam,
Preece MaryAnne,
McKiernan Patrick,
Gupta Rajat,
Macdonald Anita,
Hulton SallyAnne
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9303-y
Subject(s) - transplantation , medicine , metabolic disease , kidney transplantation , human genetics , chemistry , biochemistry , gene
We present the first reported case of B 12 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.