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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

19 Jun 2021

Abstract excerpt

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment. Here, we present an in-depth analysis of the phenotypic spectrum of MVA and provide...

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PMID: 34145613
DOI: 10.1002/jimd.12412

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