Results 151 to 160 of about 29,180 (194)
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Mevalonate kinase deficiency, a metabolic autoinflammatory disease
Clinical Immunology, 2013Mevalonate 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.
Nienke M Ter Haar, Joost Frenkel
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Clincal and Experimental Dermatology, 2023
Comment on “Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab”
F. Martora +4 more
semanticscholar +1 more source
Comment on “Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab”
F. Martora +4 more
semanticscholar +1 more source
Mevalonate Kinase Deficiency and Autoinflammatory Disorders
New England Journal of Medicine, 2007Drs. 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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Clincal and Experimental Dermatology, 2023
Hidradenitis suppurativa (HS) as a paradoxical adverse event (PAE) using anti-IL1 has not been reported in the literature. We herein report a case of paradoxical hidradenitis suppurativa due to anti-IL1 agents for mevalonate kinase deficiency disease ...
Pablo López Sanz +5 more
semanticscholar +1 more source
Hidradenitis suppurativa (HS) as a paradoxical adverse event (PAE) using anti-IL1 has not been reported in the literature. We herein report a case of paradoxical hidradenitis suppurativa due to anti-IL1 agents for mevalonate kinase deficiency disease ...
Pablo López Sanz +5 more
semanticscholar +1 more source
Retinitis pigmentosa in mevalonate kinase deficiency
Journal of Inherited Metabolic Disease, 2005SummaryRetinitis 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 +2 more
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Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
European Journal of Pediatrics, 1988Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father
K Michael Gibson, L Sweetman, R Berger
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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 (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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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Molecular Genetics and Metabolism, 2012Mevalonate 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 +2 more
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Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
Journal of Inherited Metabolic Disease, 1997Mevalonic 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 +3 more
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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.
Susanna Esposito +2 more
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