Results 11 to 20 of about 4,712 (147)

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   +7 more sources

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, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A. Brogan   +4 more
doaj   +8 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

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, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, David Coman, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers   +10 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

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness [PDF]

BMC Pediatrics, 2019
Background This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency,
Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti   +4 more
doaj   +2 more sources