Results 121 to 130 of about 4,456 (149)

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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Mevalonate Kinase Deficiency

2016
Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK.
Frenkel, Joost, Waterham, Hans R.
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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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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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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 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
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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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