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Mevalonic aciduria or mevalonicaciduria is a defect in the biosynthesis of cholesterol and isoprenoids, an accumulation of the mevalonic acid, detected in urine, resulting from the deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 22.214.171.124). It was first described in 1985.
Additional recommended knowledge
It is an inborn error of metabolism and may result in developmental delay, anemia, hepatosplenomegaly, various dysmorphic features, psychomotor retardation, among many other manifestations, and eventually failure to thrive.
Categories: Inborn errors of metabolism | Neurology
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Mevalonic_aciduria". A list of authors is available in Wikipedia.|