iBet uBet web content aggregator. Adding the entire web to your favor.
iBet uBet web content aggregator. Adding the entire web to your favor.



Link to original content: http://pubmed.ncbi.nlm.nih.gov/17401587
Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature - PubMed Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2007 Aug;22(8):1209-14.
doi: 10.1007/s00467-007-0460-z. Epub 2007 Mar 31.

Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature

Riccardo Lubrano  1 , Marco Elli, Massimo Rossi, Elisabetta Travasso, Claudia Raggi, Paola Barsotti, Claudia Carducci, Pasquale Berloco
Affiliations
Free article
Review

Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature

Riccardo Lubrano et al. Pediatr Nephrol. 2007 Aug.
Free article

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.

PubMed Disclaimer

Comment in

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Pediatr Transplant. 2002 Aug;6(4):295-300 - PubMed
    1. J Pediatr. 1988 Dec;113(6):1022-7 - PubMed
    1. J Inherit Metab Dis. 1995;18(4):430-4 - PubMed
    1. Eur J Pediatr. 1999 Dec;158 Suppl 2:S70-4 - PubMed
    1. J Pediatr. 1994 Dec;125(6 Pt 1):903-8 - PubMed

Substances