Mevalonic aciduria

Common Name(s)

Mevalonic aciduria

Mevalonic aciduria (MVA) is a rare genetic condition that causes recurring episodes of elevated body temperature (fevers) from infancy through childhood that tend to become less frequent in adulthood. The fevers usually last 3 to 6 days, and may happen as often as 25 times per year. During the fevers, affected individuals may suffer from abdominal pain, joint pain, headache, skin rashes, and diarrhea and may also have an enlarged liver and spleen (hepatosplenomegaly). Children with the disorder typically do not reach developmental milestones at the expected time (developmental delays), have trouble gaining weight, have trouble with movements (ataxia), and often have abnormal physical features, including a long face with a small head (microcephaly). Adolescents often suffer from eye-inflammation that may cause vision loss that gets worse with time. Adults are often short and develop muscle weakness (myopathy).

MVA is caused by changes (mutations) in the MVK gene, which provides instructions for the body to make an enzyme called mevalonate kinase. This enzyme is involved with making cholesterol, a substance that is important for many functions in the body. Mutations in the MVK gene cause the body to decrease production of the enzyme (mevalonate kinase enzyme deficiency) and, in turn, not enough cholesterol. MVA is inherited in an autosomal recessive way, meaning a child needs a mutation in both of their MVK gene copies to have the condition. MVA is the severe form of mevalonate kinase enzyme deficiency. Another condition, known as hyperimmunoglobulinemia D syndrome (HIDS) is the mild form of mevalonate kinase enzyme deficiency and is discussed in a separate entry.

There is currently not a cure for MVA. If your child has been diagnosed with MVA, talk with their doctor about ways to manage the symptoms. Support groups can provide additional information and connect you with others affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mevalonic aciduria" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mevalonic aciduria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mevalonic aciduria" returned 7 free, full-text research articles on human participants. First 3 results:

Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria.
 

Author(s): S Chaudhury, L Hormaza, S Mohammad, J Lokar, U Ekong, E M Alonso, M S Wainwright, M Kletzel, P F Whitington

Journal: Am. J. Transplant.. 2012 Jun;12(6):1627-31.

 

Mevalonic aciduria because of mutations of the gene for mevalonate kinase causes limited synthesis of isoprenoids, the effects of which are widespread. The outcome for affected children is poor. A child with severe multisystem manifestations underwent orthotopic liver transplantation ...

Last Updated: 30 May 2012

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Mevalonic aciduria cured by bone marrow transplantation.
 

Author(s): Peter D Arkwright, Mario Abinun, Andrew J Cant

Journal: N. Engl. J. Med.. 2007 Sep;357(13):1350.

 

Last Updated: 27 Sep 2007

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Allogeneic bone marrow transplantation in mevalonic aciduria.
 

Author(s): Bénédicte Neven, Vassili Valayannopoulos, Pierre Quartier, Stéphane Blanche, Anne-Marie Prieur, Marianne Debré, Marie-Odile Rolland, Daniel Rabier, Laurence Cuisset, Marina Cavazzana-Calvo, Pascale de Lonlay, Alain Fischer

Journal: N. Engl. J. Med.. 2007 Jun;356(26):2700-3.

 

Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that ...

Last Updated: 28 Jun 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mevalonic aciduria" returned 1 free, full-text review articles on human participants. First 3 results:

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
 

Author(s): Dorothea Haas, Georg F Hoffmann

Journal:

 

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with ...

Last Updated: 8 Jun 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
 

Status: Recruiting

Condition Summary: Mevalonic Aciduria; Mevalonate Kinase Deficiency; Immune System Diseases; Periodic Fever Syndromes, Hereditary; Lipid Metabolism, Inborn Errors

 

Last Updated: 21 Mar 2012

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B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
 

Status: Recruiting

Condition Summary: Hyper IgD Syndrome; Mevalonate Kinase Deficiency

 

Last Updated: 30 Mar 2012

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