Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort [PDF]
Pediatric Rheumatology Online JournalBackground 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 +8 more
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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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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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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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Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD) [PDF]
Pediatr Rheumatol Online J, 2014 Jeyaratnam J +4 more
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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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Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue [PDF]
, 2020 Statin-related muscle side effects are a constant healthcare problem since patient compliance is dependent on side effects. Statins reduce plasma cholesterol levels and can prevent secondary cardiovascular diseases.
Dittmar, Gunnar +10 more
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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Semin Immunopathol, 2015 Mulders-Manders CM, Simon A.
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Вопросы современной педиатрии, 2012 Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course.
Yu. S. Patrusheva, M. D. Bakradze
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