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Mevalonic aciduria

Other Names for this Disease
  • Mevalonate kinase deficiency
  • Mevalonicaciduria
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Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.[1] During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive.[1][2] Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis.[2] This deficiency occurs as a result of inherited mutations in the MVK gene.[1][2] This condition is inherited in an autosomal recessive pattern.[1] Treatment is challenging and remains mainly supportive.[2]

The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).[1] 

Last updated: 2/6/2012


  1. Mevalonate kinase deficiency. Genetics Home Reference (GHR). April 2011; Accessed 2/2/2012.
  2. Haas D, Hoffmann GF. Mevalonic aciduria. Orphanet. April 2006; Accessed 2/2/2012.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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