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Mevalonate kinase deficiency (MKD) is an autosomal recessive [2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. [3] It is a rare genetic disorder, but a high frequency is observed in Northern European regions.
As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate. [8] A reduction in mevalonate kinase activity to around 5-10% of its typical value is associated with the mevalonate kinase deficiency (MVD) resulting in accumulation of intermediate mevalonic acid. [9]
Still's disease does not affect children under 6 months old. Hyperimmunoglobulin D syndrome in 50% of cases is associated with mevalonate kinase deficiency which can be measured in the leukocytes. [citation needed]
Canakinumab, sold under the brand name Ilaris, is a medication for the treatment of systemic juvenile idiopathic arthritis, active Still's disease, including adult-onset Still's disease, gout flares. [ 4 ] [ 5 ] [ 6 ] It is a human monoclonal antibody targeted at interleukin-1 beta .
mevalonate-3-phosphate-5-kinase: Mevalonate-3-phosphate is phosphorylated at the 5-OH position to yield mevalonate-5-phosphate (also called phosphomevalonic acid). 1 ATP is consumed. phosphomevalonate kinase: mevalonate-5-phosphate is phosphorylated to yield mevalonate-5-pyrophosphate. 1 ATP is consumed. mevalonate-5-pyrophosphate decarboxylase
This particular classification encompasses both hereditary types (familial Mediterranean fever, mevalonate kinase deficiency, TNF receptor associated periodic syndrome, cryopyrin-associated periodic syndrome, Blau syndrome, pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, CRMO) and multifactorial disorders (Crohn's and ...
Scientists have classified mevalonate diphosphate decarboxylase as an enzyme in the GHMP kinase family (galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase). [6] Both mevalonate kinase and mevalonate diphosphate decarboxylase probably evolved from a common ancestor since they have a similar fold and catalyze ...
One of the best-known pyrin AIDs is Mevalonate kinase deficiency, which is an enzyme in the cholesterol biosynthesis pathway. This loss/lack of enzyme results in mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). [6]
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