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 +4 more
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Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab [PDF]
The Turkish Journal of Gastroenterology, 2020 Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder characterized by fever starting in early infancy, lasting for three to seven days, recurring every one to two months, and accompanied by diarrhea, rash, abdominal ...
Mustafa ÇAKAN +3 more
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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]
Orphanet Journal of Rare Diseases, 2006 Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
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Natural history of mevalonate kinase deficiency: a literature review. [PDF]
Pediatr Rheumatol Online J, 2016 Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare form.
Zhang S.
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Mevalonate kinase deficiency and IBD: shared genetic background. [PDF]
Gut, 2014 to ...
Bianco AM +5 more
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Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis [PDF]
International Journal of Environmental Research and Public Health, 2021 Rosanna Martinelli +2 more
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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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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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Mevalonate kinase deficiency syndrome: Single center experience
Научно-практическая ревматология, 2021 The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova +23 more
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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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