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Other Names for this Disease
- Mevalonate kinase deficiency
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 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. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive.Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.
Last updated: 2/6/2012
- Mevalonate kinase deficiency. Genetics Home Reference (GHR). April 2011; http://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency. 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.
- Genetics Home Reference (GHR) contains information on Mevalonic aciduria. This website is maintained by the National Library of Medicine.
In Depth Information
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mevalonic aciduria. Click on the link to view a sample search on this topic.