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| 1 | Rita Xu | + 801 word(s) | 801 | 2020-12-15 07:31:18 |
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Xu, R. Mevalonate Kinase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4163 (accessed on 29 September 2026).
Xu R. Mevalonate Kinase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4163. Accessed September 29, 2026.
Xu, Rita. "Mevalonate Kinase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4163 (accessed September 29, 2026).
Xu, R. (2020, December 23). Mevalonate Kinase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4163
Xu, Rita. "Mevalonate Kinase Deficiency." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
genetic conditions
References
- Favier LA, Schulert GS. Mevalonate kinase deficiency: current perspectives.Appl Clin Genet. 2016 Jul 20;9:101-10. doi: 10.2147/TACG.S93933.
- Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduriato hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13.Review.
- Haas D, Hoffmann GF. Mevalonate kinase deficiency and autoinflammatorydisorders. N Engl J Med. 2007 Jun 28;356(26):2671-3.
- Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum andgenotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 Aug;27(8):796-802.
- van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A; International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia Dsyndrome. Medicine (Baltimore). 2008 Nov;87(6):301-10. doi:10.1097/MD.0b013e318190cfb7.
- van der Hilst JC, Frenkel J. Hyperimmunoglobulin D syndrome in childhood. CurrRheumatol Rep. 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010-0086-1. Review.
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