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mevalonic aciduria
MIM.610377 12q24
Monday 25 May 2009
Mevalonic aciduria is the first recognized defect in the biosynthesis of cholesterol and isoprenoids.
It is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase.
Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (MIM.142910).
Mevalonic aciduria is caused by mutation in the mevalonate kinase gene (MVK; MIM.251170).
Synopsis
