Other Names for this Disease
- Mevalonate kinase deficiency
Your QuestionIs enzyme therapy (utilizing a synthetic form of mevalonate kinase) available for mevalonic aciduria?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Reports of successful treatment of mevalonic aciduria through allogenic bone marrow transplantation have also surfaced. At this point, this therapy is investigational and potentially applicable to patients with mevalonic aciduria whose condition is resistant to therapy with anti-inflammatory drugs (e.g., inhibitors of TNF-alpha and interleukin-1 beta).
The following articles provide additional details regarding treatment of mevalonic aciduria.
Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics. 2007 Feb;119(2):e523-7.
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007 Jun 28;356(26):2700-3.
Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med. 2007 Sep 27;357(13):1350.
More information related to this potential treatment is available through the following article.
Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84.
- Bodar EJ, Kuijk LM, Drenth JP, van der Meer JW, Simon A, Frenkel J. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis. Dec 2011; http://www.ncbi.nlm.nih.gov/pubmed/21859689. Accessed 2/2/2012.
- Haas D, Hoffmann GF. Mevalonic aciduria. Orphanet. April 2006; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=29. Accessed 2/2/2012.
- Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria. New England Journal of Medicine. 2007; http://www.nejm.org/doi/full/10.1056/NEJMoa070715#t=articleTop. Accessed 2/2/2012.
- Arkwright PD, Abinun M, Cant AJ. Mevalonic Aciduria Cured by Bone Marrow Transplantation. New England Journal of Medicine. 2007; http://www.nejm.org/doi/full/10.1056/NEJMc072018. Accessed 2/2/2012.
- Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007; http://www.ncbi.nlm.nih.gov/pubmed?term=17467679. Accessed 2/2/2012.