Results 1 to 10 of about 12,240 (123)

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, Esmeralda Oussoren, Joost Frenkel, Peter M. van Hasselt   +3 more
doaj   +6 more sources

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
doaj   +6 more sources

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke—characterization of a novel genetic variant [PDF]

Frontiers in Immunology
Mevalonate kinase deficiency (MKD) is an inherited autoinflammatory syndrome resulting from impaired isoprenoid biosynthesis due to biallelic mevalonate kinase (MVK) mutations.
Lyna-Nour Hamidi, Jack Christopher Drda, Meriem Belhocine, Meriem Belhocine, Hannah-Laure Elfassy, Hannah-Laure Elfassy, Stéphanie Ducharme-Bénard, Stéphanie Ducharme-Bénard, Maxime Chayer-Lanthier, Bushra Sultana, Bushra Sultana, Sylvain Lanthier, Sylvain Lanthier, Sylvain Lanthier   +13 more
doaj   +2 more sources

Leishmania donovani Secretory Mevalonate Kinase Regulates Host Immune Response and Facilitates Phagocytosis [PDF]

Frontiers in Cellular and Infection Microbiology, 2021
Summary StatementLeishmania secretes over 151 proteins during in vitro cultivation. Cellular functions of one such novel protein: mevalonate kinase is discussed here; signifying its importance in Leishmania infection.Visceral Leishmaniasis is a ...
Tanvir Bamra, Taj Shafi, Sushmita Das, Manjay Kumar, Manas Ranjan Dikhit, Ajay Kumar, Ashish Kumar, Kumar Abhishek, Krishna Pandey, Abhik Sen, Pradeep Das   +10 more
doaj   +2 more sources

Inhibition of human mevalonate kinase by allosteric inhibitors of farnesyl pyrophosphate synthase [PDF]

FEBS Open Bio
Mevalonate kinase is a key regulator of the mevalonate pathway, subject to feedback inhibition by the downstream metabolite farnesyl pyrophosphate. In this study, we validated the hypothesis that monophosphonate compounds mimicking farnesyl pyrophosphate
Saman Salari, Hiu‐Fung Lee, Youla S. Tsantrizos, Jaeok Park   +3 more
doaj   +2 more sources

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, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou   +4 more
doaj   +2 more sources

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, Banganho D, Pedrosa C, Farela Neves J.   +3 more
europepmc   +3 more sources

Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency – a case report [PDF]

Maternal Health, Neonatology and Perinatology
Background Mevalonate kinase deficiency is an inherited autoinflammatory disorder that can present with a wide clinical spectrum, ranging from mild forms with recurrent episodes of fever, lymphadenopathy, splenomegaly and skin rash to the much rarer ...
Henrike Hoermann, Julia Franzel, Juliane Tautz, Prasad T. Oommen, Elke Lainka, Ertan Mayatepek, Thomas Hoehn   +6 more
doaj   +2 more sources

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, Veeraya K. Tanawattanacharoen, Amy Turner, Mary Beth F. Son, Rebecca C. Hale, Craig D. Platt, Juan Putra, Birgitta A.R. Schmidt, Mollie G. Wasserman   +8 more
doaj   +2 more sources

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
doaj   +2 more sources