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Medical condition
Mevalonate kinase deficiency
Other names
Mevalonic aciduria[1] and Hyper immunoglobulin D syndrome (HIDS)
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features
Specialty
Hematology, neurology, immunology, medical genetics, endocrinology
Mevalonic acid
Mevalonate kinase deficiency (MKD) is an autosomal recessive[2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[3] It is a very rare genetic disease.
It is characterized by an elevated level of immunoglobulin D in the blood.
Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine.
The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form.
^Online Mendelian Inheritance in Man (OMIM): 251170
^"Mevalonate kinase deficiency".
^Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–Jun 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–246. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
and 23 Related for: Mevalonate kinase deficiency information
Mevalonatekinasedeficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a...
Mevalonatekinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene. Mevalonatekinases are found in a wide variety of organisms...
such as osteoporosis) A number of diseases affect the mevalonate pathway: MevalonateKinaseDeficiency Mevalonic Aciduria Hyperimmunoglobulinemia D Syndrome...
North Macedonia, ISO 3166-1 alpha-3 code and IOC country code Mevalonatekinasedeficiency, a metabolic disorder mkd (software), a documentation extractor...
classified mevalonate diphosphate decarboxylase as an enzyme in the GHMP kinase family (galactokinase, homoserine kinase, mevalonatekinase, and phosphomevalonate...
periodic syndrome (TRAPS), hyperimmunoglobulin D syndrome (HIDS)/mevalonatekinasedeficiency (MKD), and familial mediterranean fever (FMF). In June 2020,...
Familial Mediterranean fever, Hyper-IgD syndrome also known as Mevalonatekinasedeficiency, and TNF receptor associated periodic syndrome (TRAPS), and a...
(HIDS). This is now (along with mevalonic aciduria) defined as a mevalonatekinasedeficiency 260920 MVK TNF receptor associated periodic syndrome (TRAPS)...
competitively inhibiting HMG-CoA reductase, the rate-limiting enzyme of the mevalonate pathway. Because statins are similar in structure to HMG-CoA on a molecular...
– that the syndrome was due to mutations of the gene encoding for mevalonatekinase, an enzyme in the cholesterol synthesis pathway. Independently – and...
its original members: galactokinase, homoserine kinase, mevalonatekinase, and phosphomevalonate kinase. Members of the GHMP superfamily have great three-dimensional...
cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of...
animals and archaea, the mevalonate pathway produces these compounds from acetyl-CoA, while in plants and bacteria the non-mevalonate pathway uses pyruvate...
acetoacetate by HMG-CoA lyase or used in the production of cholesterol via the mevalonate pathway. Leucine is an essential amino acid in the diet of animals because...
Pitera DJ, Withers ST, Newman JD, Keasling JD (July 2003). "Engineering a mevalonate pathway in Escherichia coli for production of terpenoids". Nature Biotechnology...
inhibit TNF-α, IL-1β, and IL-6 in rat microglia. This shows that the mevalonate pathway plays a role in controlling the expression of cytokines in microglia...
+ H+, mevalonate forms. Mevalonate then undergoes three series of reactions with one ATP dedicated to each to form mevalonate-5-PP. Mevalonate-5-PP then...
many differing pathways; methylerythritol phosphate (MEP), cytosolic mevalonate (MEV), or deoxyxylulose phosphate pathway (DOXP) to name a few. In addition...
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