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abstractpubmed· Abstract 2020· item PMID:32060250

Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.