Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

Mevalonate kinase deficiency (MKD) is a recessively-inherited autoinflammatory condition caused by loss-of-function MVK mutations. This gene encodes for the enzyme mevalonate kinase (MVK), which catalyzes a crucial step of the biosynthetic pathway of cholesterol and isoprenoids. The partial deficiency of enzymatic activity causes the Hyper-IgD and periodic fever syndrome (HIDS), whereas it complete deficiency provokes the Mevalonic Aciduria (MA).