Mevalonate kinase deficiency: current perspectives [PDF]
The Application of Clinical Genetics, 2016 Leslie A Favier, Grant S Schulert Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of
Favier LA, Schulert GS
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Tocilizumab for the Treatment of Mevalonate Kinase Deficiency [PDF]
Case Reports in Pediatrics, 2018 Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway.
Nadia K. Rafiq +4 more
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Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant [PDF]
Frontiers in PediatricsMevalonate kinase deficiency (MKD) is a systemic autoinflammatory disease caused by biallelic mutations in MVK. Individuals with MKD present with a recurrent fever syndrome, often including a skin rash, gastrointestinal symptoms and lymphadenopathy.
Alice Burleigh +12 more
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Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency [PDF]
The Journal of Clinical Investigation, 2022 Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of systemic inflammation, caused by biallelic loss-of-function mutations in MVK.
Marcia A. Munoz +19 more
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Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report [PDF]
Journal of Medical Case ReportsBackground Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life.
Elisamia Ngowi +10 more
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Molecular Characterization of Trypanosoma evansi Mevalonate Kinase (TeMVK) [PDF]
Frontiers in Cellular and Infection Microbiology, 2018 The mevalonate pathway is an essential part of isoprenoid biosynthesis leading to production of a diverse class of >30,000 biomolecules including cholesterol, heme, and all steroid hormones.
Daniel P. Duarte +8 more
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Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency [PDF]
Frontiers in Immunology, 2019 The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase.
Marcia A. Munoz +10 more
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Structural insight into substrate and product binding in an archaeal mevalonate kinase. [PDF]
PLoS ONE, 2018 Mevalonate kinase (MK) is a key enzyme of the mevalonate pathway, which produces the biosynthetic precursors for steroids, including cholesterol, and isoprenoids, the largest class of natural products.
Bradley R Miller, Yan Kung
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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]
Orphanet Journal of Rare Diseases, 2006 Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
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Autoinflammatory disease syndrome of hyperimmunoglobulinemia D
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
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