A case of neonatal sweet syndrome associated with mevalonate kinase deficiency [PDF]
Pediatric Rheumatology Online Journal, 2023 Background Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is an immunologic syndrome characterized by widespread neutrophilic infiltration. Histiocytoid Sweet syndrome (H-SS) is a histopathologic variant of SS.
Margaret Irwin +8 more
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Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review [PDF]
Genes and Diseases, 2022 Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK).
Isabelle Touitou
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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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Homozygous V377I mutation causing mevalonate kinase. [PDF]
BMJ Case Rep, 2022 Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are ...
Brito T +3 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
doaj +2 more sources
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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