Mevalonate kinase deficiency and IBD: shared genetic background. [PDF]
Gut, 2014 to ...
Bianco AM +5 more
europepmc +5 more sources
PW03-021 - HSCT in mevalonate kinase deficiency [PDF]
Pediatr Rheumatol Online J, 2013 Mevalonate kinase deficiency (MKD) has a wide spectrum and severity of clinical manifestation. Patients with mutations in MVK gene leading to complete lack of the enzyme, suffer from the most severe form of disease, also known as mevalonic acydosis, whereas defects with preserved, but insufficient enzyme activity present with autoinflammatory syndrome ,
Wolska-Kuśnierz B +5 more
europepmc +3 more sources
Molecular and cellular consequences of mevalonate kinase deficiency.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseMevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic loss-of-function variants in the MVK gene, which encodes mevalonate kinase (MK), an ...
Frouwkje A. Politiek +4 more
semanticscholar +3 more sources
PW02-020 - Colitis revealing mevalonate kinase deficiency [PDF]
Pediatr Rheumatol Online J, 2013 Hyperimmunoglobulinemia D (HIDS) is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene (MVK). HIDS is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea and vomiting.
Michael L, Camille J, Brigitte B.
europepmc +3 more sources
Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency [PDF]
Pediatr Rheumatol Online J, 2015 Results Case 1 A pediatric case with splenomegaly, cervical lymphoadenopathy, failure to thrive and anemia, was found to have two pathogenic MVK variants, p.V250I and p. L315G*51, and the Q705K variant on the NLRP3 gene, considered a functional polymorphism.
Shinar Y +7 more
europepmc +3 more sources
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2015 Maurizio Bifulco
doaj +2 more sources
P868: Prenatal findings of mevalonate kinase deficiency in an MVK I268T homozygous fetus
Genetics in Medicine OpenMarek Svoboda +2 more
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Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress [PDF]
Pediatric Rheumatology Online JournalSince the molecular characterization of periodic fever syndromes led to the concept of autoinflammation, the pace of scientific advancement in this field has been dramatic.
Grant S. Schulert
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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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