Results 11 to 20 of about 4,456 (149)

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

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency [PDF]

Pediatric Rheumatology Online Journal, 2022
Objectives Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results.
Jerold Jeyaratnam, Maura Faraci, Andrew R. Gennery, Katarzyna Drabko, Mattia Algeri, Akira Morimoto, Tiarlan Sirait, Arjan C. Lankester, Michael Albert, Benedicte Neven, Joost Frenkel, on behalf of the EBMT Inborn Errors Working Party   +11 more
doaj   +2 more sources

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, Oliver P. Skinner, Etienne Masle-Farquhar, Julie Jurczyluk, Ya Xiao, Emma K. Fletcher, Esther Kristianto, Mark P. Hodson, Seán I. O’Donoghue, Sandeep Kaur, Robert Brink, David G. Zahra, Elissa K. Deenick, Kristen A. Perry, Avril A.B. Robertson, Sam Mehr, Pravin Hissaria, Catharina M. Mulders-Manders, Anna Simon, Michael J. Rogers   +19 more
doaj   +2 more sources

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 Pediatrics
Mevalonate 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, Ovgu Kul Cinar, Paul Torpiano, Marcia A. Munoz, Marcia A. Munoz, Charlotte Abell-King, Charlotte Abell-King, Michael J. Rogers, Michael J. Rogers, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan   +12 more
doaj   +2 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   +2 more sources

Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation [PDF]

Biomolecules, 2021
Mevalonate Kinase Deficiency (MKD) is a rare inborn disease belonging to the family of periodic fever syndromes. The MKD phenotype is characterized by systemic inflammation involving multiple organs, including the nervous system.
Erika Rimondi, Erica Valencic, Alberto Tommasini, Paola Secchiero, Elisabetta Melloni, Annalisa Marcuzzi   +5 more
doaj   +2 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   +2 more sources

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency [PDF]

Orphanet Journal of Rare Diseases
Background 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, Christina von Landenberg, Romina Gallizzi, Alba Migliorato, Sabata Pierno, Carmelo Rodolico, Cornelia Kornblum, Ignazio Giuseppe Arena, Wolfram S. Kunz, Jens Reimann, Antonio Toscano, Olimpia Musumeci   +11 more
doaj   +2 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   +2 more sources

Weekly oral alendronate in mevalonate kinase deficiency. [PDF]

Orphanet J Rare Dis, 2013
Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.For a history of early-onset corticosteroid-
Cantarini L, Vitale A, Magnotti F, Lucherini OM, Caso F, Frediani B, Galeazzi M, Rigante D.   +7 more
europepmc   +8 more sources