A closely related disease is mevalonic aciduria (OMIM 610.377), which is due to a near-total inactivity of the enzyme mevalonate kinase: in this condition, recurrent fever episodes appear in association with serious systemic signs, such as delayed growth, cranial-facial dysmorphism, microcephalia, cerebellar atrophy, ataxia, psychomotor retardation, retinal dystrophy, and cataracts [108]. Here, MVK is linked to mevalonic aciduria.