Results 41 to 50 of about 29,180 (194)
Journal of Human ImmunityObjectivesMevalonate kinase deficiency (MKD) is a metabolic disorder caused by a block in the mevalonate pathway, leading to impaired synthesis of cholesterol and isoprenoids. Clinically, MKD presents with recurrent inflammatory attacks. A characteristic
Anna Sediva +3 more
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Diagnosis and treatment of Mevalonate Kinase Deficiency
, 2022 Mevalonate Kinase Deficiency (MKD)is a inflammatory disease, characterized by fever and inflammation in different organ systems. The disease is rare with approximately 300 known cases worldwide. This complicates the diagnosis since many physicians are unaware of the disease and its symptoms. The diagnosis can be made by genetic testing.
Jeyaratnam, Jerold +2 more
core +4 more sources
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2015 Maurizio Bifulco
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P868: Prenatal findings of mevalonate kinase deficiency in an MVK I268T homozygous fetus
Genetics in Medicine OpenMarek Svoboda +2 more
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Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. [PDF]
Pediatr Rheumatol Online J, 2016 Background: Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are
Peciuliene S +6 more
europepmc +2 more sources
Periodic fever and mevalonate kinase deficiency [PDF]
, 2002 Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non-sterol isoprenoids.
Frenkel, Joost
openaire +2 more sources
Autoinflammatory disease syndrome of hyperimmunoglobulinemia D
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
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A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene [PDF]
مجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2016 Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
Imad Dweikat, Nadera Damsa, Enas Naser
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Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases. [PDF]
Immunol Cell Biol, 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).
Jurczyluk J +13 more
europepmc +3 more sources
Annals of the Rheumatic Diseases, 2022 Background The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and ...
M. Romano +30 more
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