Deficiency of mevalonate kinase

Known as: Kinase Deficiencies, Mevalonate, Kinase Deficiency, Mevalonate, MKD 
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and… (More)
National Institutes of Health

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Autoimmune DiseasesHereditary DiseasesHyperimmunoglobulinemia DIn Blood
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Mevalonic Aciduria

Papers overview

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2012
2012
Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency.
OBJECTIVE To describe the efficacy and safety of IL-1-targeting drugs, anakinra and canakinumab, in patients with mevalonate… (More)
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Highly Cited
2011
Highly Cited
2011
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
BACKGROUND Mevalonate kinase deficiency (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of fever and… (More)
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2010
2010
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
Mevalonate kinase deficiency (MKD) is a rare hereditary auto-inflammatory syndrome due to mutations in mevalonate kinase, the… (More)
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2008
2008
Natural Isoprenoids are Able to Reduce Inflammation in a Mouse Model of Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (MKD) is a rare disorder characterized by recurrent inflammatory episodes and, in most severe cases… (More)
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Review
2006
Review
2006
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease… (More)
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2006
2006
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene… (More)
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2003
2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
OBJECTIVE Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis… (More)
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Review
2000
Review
2000
Mevalonate kinase deficiency and Dutch type periodic fever.
Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the… (More)
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Highly Cited
1999
Highly Cited
1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by… (More)
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Highly Cited
1999
Highly Cited
1999
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive… (More)
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