Results 161 to 170 of about 9,132 (188)

Mevalonate Kinase Deficiency and Autoinflammatory Disorders

New England Journal of Medicine, 2007
Drs. Dorothea Haas and Georg Hoffmann write that mevalonic aciduria and hyperimmunoglobulinemia D syndrome are rare disorders, but they represent a unique link among inborn errors of metabolism, side effects of statin therapy, and inflammatory and rheumatic disorders.
Dorothea, Haas, Georg F, Hoffmann
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Retinitis pigmentosa in mevalonate kinase deficiency

Journal of Inherited Metabolic Disease, 2005
SummaryRetinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician.
B, Balgobind, D, Wittebol-Post, J, Frenkel   +2 more
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Uveitis, glaucoma, and cataract with mevalonate kinase deficiency

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2022
We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of ...
Nidhi, Agarwal, Mihir, Kothari
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Evolutionary hypothesis of the Mevalonate Kinase Deficiency

Medical Hypotheses, 2013
Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries. MKD is due to mutations in the second enzyme of mevalonate pathway (mevalonate kinase, MK/MVK) which results in reduced enzymatic activity and in the consequent ...
VUCH, JOSEF, MARCUZZI, ANNALISA, Bianco AM, Tommasini A, Zanin V, CROVELLA, SERGIO   +5 more
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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.
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Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

Journal of Inherited Metabolic Disease, 1997
Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality of cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy and ...
K M, Gibson, G F, Hoffmann, L, Sweetman, B, Buckingham   +3 more
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[Mevalonate kinase deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics
MEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
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Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency

Pediatrics, 2013
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting.
Michael, Levy, Alina, Arion, Dominique, Berrebi, Laurence, Cuisset, Corinne, Jeanne-Pasquier, Brigitte, Bader-Meunier, Camille, Jung   +6 more
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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
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Mevalonate Kinase Deficiency: A Survey of 50 Patients

Pediatrics, 2011
OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). METHODS: This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations.
Brigitte, Bader-Meunier, Benoit, Florkin, Jean, Sibilia, Cécile, Acquaviva, Eric, Hachulla, Gilles, Grateau, Olivier, Richer, Claire Michèle, Farber, Michel, Fischbach, Véronique, Hentgen, Patrick, Jego, Cécile, Laroche, Bénédicte, Neven, Thierry, Lequerré, Alexis, Mathian, Isabelle, Pellier, Isabelle, Touitou, Daniel, Rabier, Anne-Marie, Prieur, Laurence, Cuisset, Pierre, Quartier   +20 more
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