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Article

Mevalonate kinase deficiency: current perspectives

1 Jul 2016

Abstract excerpt

Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely...

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PMID: 27499643
DOI: 10.2147/tacg.s93933

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