Results 121 to 130 of about 4,712 (147)

Perinatal Onset Mevalonate Kinase Deficiency

Pediatric and Developmental Pathology, 2011
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually
Laurie A, Steiner, Richard A, Ehrenkranz, Steven M, Peterec, Robert D, Steiner, Miguel, Reyes-Múgica, Patrick G, Gallagher   +5 more
openaire   +2 more sources

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

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular Genetics and Metabolism, 2012
Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis.
Marina Salvadori, Chitra Prasad, C A Rupar   +2 more
exaly   +3 more sources

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
openaire   +2 more sources

Neurological manifestations in mevalonate kinase deficiency: A systematic review

Molecular Genetics and Metabolism, 2022
Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe neurological involvement.
Sophie Georgin-Lavialle, Gilles Grateau, Inès ELHANI   +2 more
exaly   +3 more sources

Current Advances in the Understanding and Treatment of Mevalonate Kinase Deficiency

International Journal of Immunopathology and Pharmacology, 2014
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically have an early onset in infancy. MKD is characterized by recurrent episodes of high fever, abdominal distress, diffuse joint pain, and skin rashes.
Donato Rigante, Luca Cantarini, Elena Verrecchia   +2 more
exaly   +6 more sources

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

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   +3 more sources

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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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   +2 more sources