From Standard of Care
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Rare inborn error of isoprene biosynthesis.
Autosomal recessive disease secondary to deficiency of mevalonate kinase resulting from a mutation of the mevalonate kinase gene.
Residual activity of mevalonate kinase is less than 1%.
Mevalonate kinase catalyzes phosphorylation of mevalonic acid and plays of significant role in isoprenoid biosynthesis pathway.
Product of mevalonate kinase include heme A, ubiquinone (coenzyme Q-10), dolichol and cholesterol.
Results from deficiency of mevalonate kinase.
Typically children have recurrent attacks of fever, have developmental delay, ataxia, failure to thrive, dysmorphic features, retinal dystrophy and cataracts.
More than 50% of children die from an inflammatory crisis in infancy or early childhood.
Patients rarely survive to adolescence.