Results 121 to 130 of about 28,306 (175)

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
openaire   +2 more sources

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
openaire   +2 more sources

Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate kinase deficiency - A case report.

Journal of Stroke & Cerebrovascular Diseases, 2022
OBJECTIVES Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disease characterized by recurrent systemic inflammation attacks. Despite interconnections with inflammation, thrombosis is rare or underreported in MKD. Our goal is
J. Blais, Didier Bonneville-Roussy, H. Elfassy, S. Lanthier   +3 more
semanticscholar   +1 more source

PO:19:286 | Genetic testing reveals an unexpected case of mevalonate kinase deficiency in a 37-year-old patient with AA renal amyloidosis and good response to colchicine

Reumatismo
Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disease usually diagnosed in pediatric age.   Case presentation. A 37-year-old male, born in Pakistan from consanguineous parents was first evaluated in March 2024 at the Nephrology ...
Società Italiana Di Reumatologia
semanticscholar   +1 more source

Mevalonate Kinase Deficiency and Autoinflammation

New England Journal of Medicine, 2007
To the Editor: The Perspective article about mevalonate kinase deficiency and autoinflammatory disorders by Haas and Hoffmann (June 28 issue)1 accompanies the Brief Report by Neven et al.2 The Perspective describes the disease spectrum of human mevalonate kinase deficiency, which includes unexplained periodic episodes of fever and inflammation, and ...
Elizabeth J. Hager, K. Michael Gibson
openaire   +1 more source

Treatment advances in mevalonate kinase deficiency: A comprehensive review

Eurasian Journal of Medicine and Oncology
Mevalonate kinase deficiency (MKD) is a rare auto-inflammatory disease caused by mutations in the mevalonate kinase gene. This leads to problems with isoprenoid production and cell function. Individuals with MKD usually experience repeated fever episodes,
Chenxi Li, Xilong Tang, Xiangyuan Chen, Ping Zeng   +3 more
semanticscholar   +1 more source

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Inflammatory Bowel Diseases, 2021
Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology.
B. Bader-Meunier, Andreia Martins, F. Charbit-Henrion, U. Meinzer, A. Belot, L. Cuisset, A. Faye, S. Georgin-lavialle, P. Quartier, V. Rémy-Piccolo, F. Ruemmele, F. Uettwiller, J. Viala, Nadine Cerf Bensussan, D. Berrebi, I. Melki   +15 more
semanticscholar   +1 more source

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
openaire   +4 more sources

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.

Rheumatology, 2021
OBJECTIVES To evaluate the long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency (MKD) during the open label extension (weeks 41-113) of the randomised controlled CLUSTER trial.
Jerold Jeyaratnam, A. Simon, I. Calvo, T. Constantin, A. Shcherbina, M. Hofer, M. Gattorno, A. Martini, B. Bader-Meunier, B. Vastert, J. Levy, E. Dekker, F. De Benedetti, J. Frenkel   +13 more
semanticscholar   +1 more source

Mevalonate kinase deficiency, a metabolic autoinflammatory disease

Clinical Immunology, 2013
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment. Mutations in both copies of the MVK-gene lead to a block in the mevalonate pathway. Interleukin-1beta mediates the inflammatory phenotype.
Robert, van der Burgh, Nienke M, Ter Haar, Marianne L, Boes, Joost, Frenkel   +3 more
openaire   +2 more sources