Mevalonate kinase deficiency
YANG Jun
WENG Ruo-hang
Abstract：Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease.There are two phenotypes of MKD based on the degree of the mevalonate kinase (MVK) deficiency and clinical symptoms,including hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)and mevalonic aciduria (MA).This article will systematically review the pathogenesis,manifestations,diagnosis,treatment,and prognosis of this rare disease.
Keywords：mevalonate kinase deficiencyhyperimmunoglobulinemia D with periodic fever syndromemevalonic aciduriaMVK gene
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 18-22 )