Results 1 to 10 of about 28,306 (175)

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   +7 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   +3 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   +3 more sources

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, Asmaa Sakhi, Ahmed Aziz Bousfiha, Kenza Bouayed   +3 more
doaj   +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   +3 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

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   +3 more sources

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report [PDF]

Journal of Medical Case Reports
Background 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, Rukhsar Osman, Hajaj Mohamed Salum, Maria Bulimba, Evance Godfrey, Aika Abia Shoo, Nahida Z. Walli, Mohamedraza Ebrahim, Mariam Noorani, Peter M. Swai, Francis F. Furia   +10 more
doaj   +3 more sources

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort [PDF]

Pediatric Rheumatology Online Journal
Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease, and mevalonic aciduria (MA) is a severe phenotype of MKD. The present study reports the characteristics of MKD and four novel mutations in the mevalonate kinase (MVK) gene ...
Chenchen Guan, Wenjie Wang, Qinhua Zhou, Jinqiao Sun, Lipin Liu, Luyao Liu, Bijun Sun, Jia Hou, Xiaochuan Wang   +8 more
doaj   +3 more sources

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations [PDF]

Frontiers in Immunology
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes.
Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Helena Wouters, Isabelle Koné-Paut, Jasmin Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen Jane Lachmann, Marco Gattorno, Michael Hofer, Nataša Toplak, Peter Weiser, Tilmann Kallinich, Seza Ozen, Véronique Hentgen, Yosef Uziel, Zsuzsanna Horváth, Márton Szabados, Paul Brogan, Tamás Constantin, Joost Frenkel   +22 more
doaj   +3 more sources