Results 31 to 40 of about 29,180 (194)

Weekly oral alendronate in mevalonate kinase deficiency. [PDF]

Orphanet J Rare Dis, 2013
Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.For a history of early-onset corticosteroid-
Cantarini L, Vitale A, Magnotti F, Lucherini OM, Caso F, Frediani B, Galeazzi M, Rigante D.   +7 more
europepmc   +9 more sources

Putative modifier genes in mevalonate kinase deficiency

Molecular Medicine Reports, 2016
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype.
MARCUZZI, ANNALISA, VOZZI, DIEGO, GIRARDELLI, MARTINA, TRICARICO, PAOLA MAURA, Knowles, Alessandra, CROVELLA, SERGIO, VUCH, JOSEF, TOMMASINI, ALBERTO, PISCIANZ, ELISA, BIANCO, ANNA MONICA ROSARIA   +9 more
openaire   +5 more sources

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractMevalonate kinase deficiency (MKD) is an autoinflammatory disorder caused by mutations in the MVK gene resulting in decreased activity of the enzyme mevalonate kinase (MK). Although MK is required for biosynthesis of all isoprenoids, in MKD, in particular, the timely synthesis of geranylgeranyl pyrophosphate appears to be compromised.
Henneman, L., Schneiders, M.S., Turkenburg, M., Waterham, H.R.   +3 more
openaire   +4 more sources

Hyper-IgD syndrome or mevalonate kinase deficiency

Current Opinion in Rheumatology, 2011
The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
openaire   +3 more sources

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience

The Turkish Journal of Pediatrics
Background. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods.
Elif Kılıç Könte, Ece Aslan, Nergis Akay, Ümit Gül, Esma Aslan, Aybüke Günalp, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, Sezgin Şahin, Kenan Barut, Özgür Kasapçopur   +11 more
doaj   +2 more sources

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency

Cellular Physiology and Biochemistry, 2017
Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico, Alessandra Romeo, Rossella Gratton, Sergio Crovella, Fulvio Celsi   +4 more
doaj   +2 more sources

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, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti   +4 more
doaj   +2 more sources

Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation

Current Pharmaceutical Design, 2012
Inflammation is a highly regulated process involved both in the response to pathogens as well as in tissue homeostasis. In recent years, a complex network of proteins in charge of inflammation control has been revealed by the study of hereditary periodic fever syndromes.
A. Marcuzzi, S. Crovella, L. Monasta, L. V. Brumatti, M. Gattorno, J. Frenkel   +5 more
openaire   +4 more sources

Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

Pediatrics, 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 manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash.
Prietsch, Viola, Mayatepek, Ertan, Krastel, Hermann, Haas, Dorothea, Zundel, Dorothee, Waterham, Hans R., Wanders, Ronald J. A., Gibson, K. Michael, Hoffmann, Georg F.   +8 more
openaire   +4 more sources

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
doaj   +3 more sources