Mevalonate kinase

Function

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate. A reduction in mevalonate kinase activity to around 5-10% of its typical value is associated with the mevalonate kinase deficiency (MVD) resulting in accumulation of intermediate mevalonic acid.

Clinical significance

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.

Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. The symptoms of the disease typically start at infancy and may be additionally triggered by stress or bacterial infection. Children with mevalonate kinase deficiency may remain undiagnosed for a long time as there is not enough scientific data at the moment to accurately diagnose children with the disease.

References

References

1. (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". Journal of Structural and Functional Genomics.
2. "Entrez Gene: mevalonate kinase".
3. (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". The Journal of Biological Chemistry.
4. (July 2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology.
5. (December 2013). "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International.
6. {{OMIM. 260920