Mevalonate Kinase Deficiency Overview
Learn About Mevalonate Kinase Deficiency
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
Mutations in the MVK gene cause mevalonate kinase deficiency. The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol, which is later converted into steroid hormones and bile acids. Steroid hormones are needed for normal development and reproduction, and bile acids are used to digest fats. Mevalonate kinase also helps to produce other substances that are necessary for certain cellular functions, such as cell growth, cell maturation (differentiation), formation of the cell's structural framework (the cytoskeleton), gene activity (expression), and protein production and modification.
More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Arthritis Associates Of Kingsport
. Dr. Morris is rated as a Distinguished provider by MediFind in the treatment of Mevalonate Kinase Deficiency. His top areas of expertise are Rheumatoid Arthritis (RA), Mevalonate Kinase Deficiency, Fibromyalgia, and Neonatal Onset Multisystem Inflammatory Disease.
Isabelle Paut-Kone practices in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Mevalonate Kinase Deficiency. Her top areas of expertise are Mevalonate Kinase Deficiency, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Vitrectomy.
Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Mevalonate Kinase Deficiency. Her top areas of expertise are Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.
Summary: This is a study to evaluate safety and effectiveness of Ilaris in adult and pediatric patients receiving the drug in a clinical setting for any of the following indications, Hereditary Periodic Fever Syndromes, Cryopyrin-associated periodic syndromes (CAPS), colchicine resistance familial Mediterranean fever (crFMF), TNF receptor associated periodic syndrome (TRAPS), Hyper-IgD syndrome / Mevalonat...
Summary: Mevalonate kinase deficiency (HyperIgD syndrome, HIDS) is an inborn error of immunity caused by a block in the mevalonate pathway. The subsequent lack of isoprenoids with antiinflammatory properties might contribute to the autoinflammatory nature of the disease. A pilot study aims to verify the safety and efficacy of the dietary supplement Geranylgeraniol, aiming at a mitigation of isoprenoids def...
Published Date: October 01, 2018
Published By: National Institutes of Health