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Genetic and Rare Diseases Information Center (GARD)

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Mevalonic aciduria

Other Names for this Disease
  • Mevalonate kinase deficiency
  • Mevalonicaciduria
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Your Question

Is enzyme therapy (utilizing a synthetic form of mevalonate kinase) available for mevalonic aciduria?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might mevalonic aciduria be treated?

Treatment of mevalonic aciduria remains a challenge.[1] There is no standard treatment that is effective in all patients, so it remains mainly supportive.[2] Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation of mevalonic acid), which has been used with guarded success in patients with HIDS, worsened the clinical status of two patients with mevalonic aciduria.[3] Anakinra, another medication used with some degree of success in HIDS patients, induced partial remission in at least one patient with mevalonic aciduria, but not all patients respond to so favorably.[1] 

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).[3][4]

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.

Last updated: 2/2/2012

Is enzyme replacement therapy available for mevalonic aciduria?

Enzyme replacement therapy is not currently available for mevalonic aciduria.[5]

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.

Last updated: 2/2/2012