title: Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.
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 B(12)-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.
authors.affiliation: Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Coman
authors.forename: J
authors.initials: J
authors.lastname: Huang
authors.forename: S
authors.initials: S
authors.lastname: McTaggart
authors.forename: O
authors.initials: O
authors.lastname: Sakamoto
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: J
authors.initials: J
authors.lastname: McGill
authors.forename: J
authors.initials: J
authors.lastname: Burke
mesh_terms: D000293:Adolescent; D003038:Cobamides; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000378:metabolism* / Q000601:surgery*; D016030:Kidney Transplantation; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000150:complications / Q000188:drug therapy* / Q000378:metabolism*; D008764:Methylmalonic Acid; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D003038:Cobamides; D008764:Methylmalonic Acid; C000913:cobamamide; D014805:Vitamin B 12