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Neurological manifestations in mevalonate kinase deficiency: A systematic review
Molecular Genetics and Metabolism, 2022Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe neurological involvement.
Inès, Elhani +3 more
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Hyper-IgD syndrome or mevalonate kinase deficiency
Current Opinion in Rheumatology, 2011The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
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[Mevalonate kinase deficiency].
La Revue du praticienMEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
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Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum
Pediatrics, 2003Objective. Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash.
Prietsch, Viola +8 more
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[Mevalonate kinase deficiency in 2016].
La Revue de medecine interne, 2018Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum ...
C, Galeotti +4 more
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Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
Indian Journal of Pediatrics, 2021Puneet Kumar Choudhary +3 more
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Monocyte Production of IFN-γ Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency
Journal of Interferon and Cytokine Research, 2019Eric Vogt
exaly
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency
Joint Bone Spine, 2015Isabelle Koné-Paut +2 more
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