title: Renal transplantation in a boy with methylmalonic acidaemia.
abstract: 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.
authors.affiliation: Department of Paediatric Nephrology, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, West Midlands B4 6NH, UK. jcclothier@doctors.org.uk
authors.forename: Joanna Clare
authors.initials: JC
authors.lastname: Clothier
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakrapani
authors.forename: Mary-Anne
authors.initials: MA
authors.lastname: Preece
authors.forename: Patrick
authors.initials: P
authors.lastname: McKiernan
authors.forename: Rajat
authors.initials: R
authors.lastname: Gupta
authors.forename: Anita
authors.initials: A
authors.lastname: Macdonald
authors.forename: Sally-Anne
authors.initials: SA
authors.lastname: Hulton
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000503:physiopathology / Q000628:therapy*; D002648:Child; D002657:Child Development / Q000502:physiology; D002675:Child, Preschool; D003241:Consanguinity; D018753:Diet, Protein-Restricted; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D016030:Kidney Transplantation; D008297:Male