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- W2486039583 abstract "Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity. Mevalonate kinase is essential for the biosynthesis of nonsterol isoprenoids, which mediate protein prenylation. Although the precise pathogenesis of MKD remains unclear, increasing evidence suggests that deficiency in protein prenylation leads to innate immune activation and systemic hyperinflammation. Given the emerging understanding of MKD as an autoinflammatory disorder, recent treatment approaches have largely focused on cytokine-directed biologic therapy. Herein, we review the current genetic and pathologic understanding of MKD, its various clinical phenotypes, and the evolving treatment approach for this multifaceted disorder." @default.
- W2486039583 created "2016-08-23" @default.
- W2486039583 creator A5002868596 @default.
- W2486039583 creator A5056183588 @default.
- W2486039583 date "2016-07-01" @default.
- W2486039583 modified "2023-09-30" @default.
- W2486039583 title "Mevalonate kinase deficiency: current perspectives" @default.
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- W2486039583 doi "https://doi.org/10.2147/tacg.s93933" @default.
- W2486039583 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4959763" @default.
- W2486039583 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27499643" @default.
- W2486039583 hasPublicationYear "2016" @default.
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