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Mevalonate kinase (MVK) is an enzyme involved in biosynthesis isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg 2+. Downstream of this enzyme, mevalonate-5-phosphate is converted into non-sterol (geranylgeranyl, farnesyl) or sterol isoprenoids (cholesterol). MKD is due to a pathogenic ...
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).
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]
Refsum disease is an autosomal recessive [5] neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
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.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().
The clinical syndrome was partially reversed in a model system by supplementation with the downstream metabolite mevalonolactone. [ 23 ] The presence of anti HMG-CoA reductase antibodies is seen in people with statin-associated autoimmune myopathy , which is a very rare form of muscle damage caused by the immune system in people who take statin ...
Wolff–Parkinson–White syndrome is a common conduction pattern in Danon disease. Symptoms in females progress more slowly than in males. Some females may have visual disturbances, and/or retinal pigment abnormalities; Danon Disease is rare and unfamiliar to most physicians.