Results 131 to 140 of about 12,683 (169)

Mevalonate Kinase Deficiency

2019
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations.
Joost Frenkel, Anna Simon
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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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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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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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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
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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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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.
Chitra, Prasad, Marina I, Salvadori, C A, Rupar   +2 more
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Mevalonic kinase in rabbit liver

Biochimica et Biophysica Acta, 1961
Abstract Mevalonic kinase has been purified 100-fold from an acetone powder of rabbit liver by ammonium sulfate fractionation, protamine sulfate precipitation, and DEAE-cellulose chromatography. This enzyme catalyses the formation of P-MVA and ADP from the biologically active isomer of MVA and ATP.
Kehl Markley, Elizabeth Smallman
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[8] Mevalonate kinase

1985
Publisher Summary This chapter discusses mevalonate kinase. Mevalonate kinase has been found in a wide variety of sources. Some of these are yeast autolysate, pig and rabbit liver extracts, superovulated rat ovaries, pumpkin seedlings, rubber latex, larva of the flesh fly, green leaves and etiolated cotyledons of French beans, Pinus pinaster ...
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