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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Management of Mevalonate Kinase Deficiency: A Pediatric Perspective [PDF]
Frontiers in Immunology, 2020 Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. This clinically manifests itself as fever and can be accompanied by gastrointestinal symptoms, oral ulcers ...
Jerold Jeyaratnam, Joost Frenkel
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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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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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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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Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency [PDF]
Orphanet Journal of Rare DiseasesBackground Mevalonate kinase deficiency (MKD) is a rare genetic disorder, resulting in the lack of the mevalonate kinase enzyme (MVK), which is involved in the biosynthesis of cholesterol, non-sterol isoprenoids, and coenzyme Q10 (CoQ10). The more severe
Alessia Pugliese +11 more
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Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report [PDF]
Pediatric Rheumatology Online Journal, 2021 Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase.
Ebun Omoyinmi +4 more
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Neurological manifestations in mevalonate kinase deficiency: A systematic review
Molecular Genetics and Metabolism, 2022 INTRODUCTION Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA).
Inés Elhani +2 more
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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Seminars in Immunopathology, 2015 Contains fulltext : 153021.pdf (Publisher’s version ) (Open Access)Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene.
Anna Simon
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Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis. [PDF]
Cureus, 2023 Systemic autoinflammatory diseases (SAIDs) are a group of disorders that constitute a rare cause of recurrent fevers. Recurrent fevers are defined as periodic febrile episodes lasting from days to weeks, separated by symptom-free intervals of variable ...
Pereira-Nunes J +5 more
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