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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Isolated neurological presentations of mevalonate kinase deficiency [PDF]
JIMD Reports, 2023 Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms
Eva M. M. Hoytema van Konijnenburg +3 more
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Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency [PDF]
Frontiers in Immunology, 2021 Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
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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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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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Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke—characterization of a novel genetic variant [PDF]
Frontiers in ImmunologyMevalonate kinase deficiency (MKD) is an inherited autoinflammatory syndrome resulting from impaired isoprenoid biosynthesis due to biallelic mevalonate kinase (MVK) mutations.
Lyna-Nour Hamidi +13 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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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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Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency [PDF]
Global Pediatric Health, 2023 Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory disease, with a widely variable clinical spectrum. It is characterized by febrile recurrent episodes and systemic inflammation. Data on therapeutic options for MKD are still limited
Manal Souali +3 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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