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Hoffmann, "Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome," Orphanet Journal of Rare Diseases, vol.
Mutations in the gene encoding mevalonate kinase
cause hyper-IgD and periodic fever syndrome.
Boes, "Unprenylated RhoA contributes to IL-1 [beta] hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity," Journal of Biological Chemistry, vol.
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Mevalonate kinase deficiency: a survey of 50 patients.
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.
Gibson, "Post-translational regulation of mevalonate kinase
by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways," Journal of Lipid Research, vol.
van Hagen et al., "Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa," Ophthalmology, vol.
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A closely related disease is mevalonic aciduria (OMIM 610.377), which is due to a near-total inactivity of the enzyme mevalonate kinase
: in this condition, recurrent fever episodes appear in association with serious systemic signs, such as delayed growth, cranial-facial dysmorphism, microcephalia, cerebellar atrophy, ataxia, psychomotor retardation, retinal dystrophy, and cataracts .
, the protein encoded by MVK, is an important enzyme in the mevalonate pathway that is vital for multiple cellular processes by providing cells with essential bioactive molecules.