Other Names for this Disease
- Complete mevalonate kinase deficiency
- Disorder of lipid absorption and transport
- Mevalonate kinase deficiency
 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.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=403&Disease_Disease_Search_diseaseGroup=Mevalonic-aciduria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Mevalonic-aciduria&title=Mevalonic-aciduria&searc. Accessed 2/2/2012.
- Genetics Home Reference (GHR) contains information on Mevalonic aciduria. This website is maintained by the National Library of Medicine.
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