Results 41 to 50 of about 519 (143)

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

Case Reports in Pediatrics, Volume 2018, Issue 1, 2018., 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. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life‐threatening sequelae if ...
Nadia K. Rafiq, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A. Brogan, Ozgur Cogulu   +5 more
wiley   +1 more source

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

JIMD Reports, Volume 65, Issue 5, Page 305-312, September 2024.
Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood.
Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay   +10 more
wiley   +1 more source

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

Immunology &Cell Biology, Volume 94, Issue 10, Page 994-999, November/December 2016., 2016
Mevalonate kinase deficiency (MKD) is caused by mutations in a key enzyme of the mevalonate–cholesterol biosynthesis pathway, leading to recurrent autoinflammatory disease characterised by enhanced release of interleukin‐1β (IL‐1β). It is currently believed that the inflammatory phenotype of MKD is triggered by temperature‐sensitive loss of mevalonate ...
Julie Jurczyluk, Marcia A Munoz, Oliver P Skinner, Ryan C Chai, Naveid Ali, Umaimainthan Palendira, Julian MW Quinn, Alexandra Preston, Stuart G Tangye, Andrew J Brown, Elizabeth Argent, John B Ziegler, Sam Mehr, Michael J Rogers   +13 more
wiley   +1 more source

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

International Journal of Laboratory Hematology, Volume 46, Issue 4, Page 595-605, August 2024.
This review focuses on recent advancements in the field of hereditary dyserythropoietic anemias and provides a gene‐based classification of this heterogeneous group of genetic disorders. Abstract Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development ...
Roberta Russo, Achille Iolascon, Immacolata Andolfo, Roberta Marra, Barbara Eleni Rosato   +4 more
wiley   +1 more source

Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis

, 2013
Mevalonic aciduria, a rare autosomal recessive disease, represents the most severe form of the periodic fever, known as Mevalonate Kinase Deficiency. This disease is caused by the mutation of the MVK gene, which codes for the enzyme mevalonate kinase ...
MARCUZZI, ANNALISA, TRICARICO, PAOLA MAURA, Lorenzo Monasta, Sergio Crovella, Annalisa Marcuzzi, Giulio Kleiner, PISCIANZ, ELISA, Paola Tricarico, Elisa Piscianz, CROVELLA, SERGIO   +9 more
core   +1 more source

Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 302-316, March 2024.
Abstract Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder caused by bi‐allelic loss‐of‐function variants in the MVK gene, resulting in decreased activity of the encoded mevalonate kinase (MK). Clinical presentation ranges from the severe early‐lethal mevalonic aciduria to the milder hyper‐IgD syndrome (MKD–HIDS), and is in ...
Frouwkje A. Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R. Waterham   +4 more
wiley   +1 more source

Characterization of novel mevalonate kinases from the tardigrade Ramazzottius varieornatus and the psychrophilic archaeon Methanococcoides burtonii

Acta Crystallographica Section D, Volume 80, Issue 3, Page 203-215, March 2024.
This work reports the purification, biochemical characterization and high‐resolution structures of two novel mevalonate kinases: one from the extremotolerant tardigrade Ramazzottius varieornatus at 2 Å resolution and one from the psychrophilic archaeon Methanococcoides burtonii at 2.2 Å resolution.Mevalonate kinase is central to the isoprenoid ...
Lygie Esquirol, Janet Newman, Tom Nebl, Colin Scott, Claudia Vickers, Frank Sainsbury, Thomas S. Peat   +6 more
wiley   +1 more source

Mevalónová acidúria / Mevalonic aciduria

Súhrn Mevalónová acidúria (OMIM#610377) je zriedkavá dedičná metabolická porucha zapríčinená deficitom mevalonátkinázy, ktorá katalyzuje jednu z prvých reakcií pri biosyntéze cholesterolu a iných nesteroidných izoprenoidov. V závislosti od reziduálnej aktivity enzýmu sa  klinicky manifestuje ako  mevalónová acidúria alebo hyper-IgD syndróm (HIDS ...
Slabá, Lucia, Šebová, Claudia, Hlavatá, Anna, Brucknerová, Ingrid, Prídavok, Matúš, Maceková, Danka, Petrovič, Róbert, Šťastná, Sylvie   +7 more
openaire   +3 more sources

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

, 2003
OBJECTIVE: Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually ...
Zundel, Dorothee, Waterham, Hans R., Wanders, Ronald J. A., Dorothee Zundel, K. Michael Gibson, Ertan Mayatepek, Prietsch, Viola, Haas, Dorothea, Viola Prietsch, Hoffmann, Georg F., Dorothea Haas, Mayatepek, Ertan, Hermann Krastel, Gibson, K. Michael, Georg F. Hoffmann, Ronald J.A. Wanders, Krastel, Hermann, Hans R. Waterham   +17 more
core   +1 more source

Periodic Fever Syndrome and Developmental Delay

, 2019
The key to diagnosis of mevalonate kinase deficiency, hyper-IgD syndrome (MKD/HIDS) is recurrent fever attacks of 4–6 days, associated with aphthous stomatitis, enlargement of lymph nodes, splenomegaly, abdominal pain, diarrhea, and rash MKD is a rare ...
Berg, Stefan,, Stefan Berg, Wekell, Per,, Per Wekell, Anders Fasth, Fasth, Anders,   +5 more
core   +1 more source