Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVKgene.[6][7] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:
Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[6] As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate.[8] 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.[9]
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.[6] 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.[9]
^ abStabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (December 2013). "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International. 33 (12): 3039–42. doi:10.1007/s00296-012-2577-z. PMID23239036. S2CID3220012.
Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S (2009). "Hyper-IgD syndrome with novel mutation in a Japanese girl". Modern Rheumatology. 19 (1): 96–9. doi:10.1007/s10165-008-0130-4. PMID18941711. S2CID25331505.
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Samkari A, Borzutzky A, Fermo E, Treaba DO, Dedeoglu F, Altura RA (April 2010). "A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia". Pediatrics. 125 (4): e964-8. doi:10.1542/peds.2009-1774. PMID20194276. S2CID24915125.
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Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, et al. (June 2008). "A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children". Arthritis and Rheumatism. 58 (6): 1823–32. doi:10.1002/art.23474. hdl:11368/2299050. PMID18512793.
