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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

7 Apr 2021

Abstract excerpt

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the...

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PMID: 33917151
DOI: 10.3390/jcm10081552

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