title: Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.
abstract: Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism. Patients with severe disease develop many complications despite treatment; often, the disease progresses to severe damage of the central nervous system or to end-stage renal disease (ESRD). When medical treatment is ineffective, liver, kidney, or combined liver and kidney transplantation is advocated. At present, there are no definite guidelines as for the organ to be transplanted, and results are inconsistent. We report on a 27-year-old woman with MMA MUT0. The clinical symptoms developed at age 4 months. She progressed to ESRD and received a kidney transplant in November 1996 at age 17 years. One hundred and twenty months after transplant, renal function is normal; although urinary levels of methylmalonic acid are above normal limits, no episodes of metabolic decompensation have been observed after transplantation. Although liver is the major site of methylmalonyl-CoA mutase activity, this case and similar ones in the literature suggest that the smaller mutase activity present in the transplanted kidney may be sufficient to ensure partial correction of the metabolism of organic acids sufficient to prevent the onset of episodes of metabolic decompensation. It is worth investigating whether kidney transplant can be a safer and more satisfactory alternative to liver transplantation in cases of MMA unresponsive to medical treatment although urine MMA excretion remains significantly elevated.
authors.affiliation: Dipartimento di Pediatria, Università degli Studi di Roma La Sapienza, Viale Regina Elena 324, 00161, Rome, Italy. riccardo.lubrano@uniroma1.it
authors.forename: Riccardo
authors.initials: R
authors.lastname: Lubrano
authors.forename: Marco
authors.initials: M
authors.lastname: Elli
authors.forename: Massimo
authors.initials: M
authors.lastname: Rossi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Travasso
authors.forename: Claudia
authors.initials: C
authors.lastname: Raggi
authors.forename: Paola
authors.initials: P
authors.lastname: Barsotti
authors.forename: Claudia
authors.initials: C
authors.lastname: Carducci
authors.forename: Pasquale
authors.initials: P
authors.lastname: Berloco
mesh_terms: D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000209:etiology / Q000652:urine; D007676:Kidney Failure, Chronic / Q000150:complications; D016030:Kidney Transplantation; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics*; D012189:Retrospective Studies; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase