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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.
A third mevalonate pathway variant found in Thermoplasma acidophilum, phosphorylates mevalonate at the 3-OH position followed by phosphorylation at the 5-OH position. The resulting metabolite, mevalonate-3,5-bisphosphate, is decarboxylated to IP, and finally phosphorylated to yield IPP (Archaeal Mevalonate Pathway II).
PI3kinase. The pathophysiology of activated PI3K delta syndrome has several aspects. [2] The normal function has P110δ (PI3K) involved in immune system regulation. [9]P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous ...
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]
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation.Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells.
Both mevalonate kinase and mevalonate diphosphate decarboxylase probably evolved from a common ancestor since they have a similar fold and catalyze phosphorylation of similar substrates. [ 6 ] [ 7 ] Due to these commonalities, both enzymes are often studied comparatively, and especially in reference to inhibitors.
Galactokinase does not belong to the sugar kinase family, but rather to a class of ATP-dependent enzymes known as the GHMP superfamily. [10] GHMP is an abbreviation referring to its original members: galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase. Members of the GHMP superfamily have great three-dimensional ...
Hyper-IgD syndrome (Mevalonate kinase deficiency) CIAS1-related diseases: Muckle–Wells syndrome; Familial cold autoinflammatory syndrome, types 1, 2, 3, and 4; Neonatal onset multisystem inflammatory disease; NLRP1 deficiency; PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) ADAM17 deficiency; Blau syndrome