Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Mevalonic aciduria


Other Names for this Disease

  • Mevalonate kinase deficiency
  • Mevalonicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. Mevalonate kinase deficiency. Genetics Home Reference (GHR). April 2011; http://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency. Accessed 2/2/2012.
  2. 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Mevalonic aciduria have been answered. See questions and answers. You can also submit a new question.

Basic Information

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.
Other Names for this Disease
  • Mevalonate kinase deficiency
  • Mevalonicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.