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Mevalonic aciduria, also called mevalonate kinase deficiency, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. [1]
Mevalonic aciduria causes an accumulation of mevalonic acid, detected in the urine, resulting from the deficiency of mevalonate kinase[2] (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
It was first described in 1985.[3]
Classified as an inborn error of metabolism, the disorder usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, among many other manifestations, and an overall failure to thrive.
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