title: Renal transplantation in a patient with methylmalonic acidaemia.
abstract: Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.
authors.affiliation: Waisman Center, University of Wisconsin-Madison, USA.
authors.forename: S C
authors.initials: SC
authors.lastname: Van Calcar
authors.forename: C O
authors.initials: CO
authors.lastname: Harding
authors.forename: P
authors.initials: P
authors.lastname: Lyne
authors.forename: K
authors.initials: K
authors.lastname: Hogan
authors.forename: R
authors.initials: R
authors.lastname: Banerjee
authors.forename: H
authors.initials: H
authors.lastname: Sollinger
authors.forename: R E
authors.initials: RE
authors.lastname: Rieselbach
authors.forename: J A
authors.initials: JA
authors.lastname: Wolff
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation; D008764:Methylmalonic Acid / Q000097:blood / Q000378:metabolism* / Q000652:urine; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D009395:Nephritis, Interstitial / Q000209:etiology / Q000628:therapy
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase