Treatment advances in mevalonate kinase deficiency: A comprehensive review

Mevalonate kinase deficiency (MKD) is a rare auto-inflammatory disease caused by mutations in the mevalonate kinase gene. This leads to problems with isoprenoid production and cell function. Individuals with MKD usually experience repeated fever episodes, along with stomach issues, mouth sores, swollen neck lymph nodes, and skin rashes. In addition, the severity of MKD varies markedly among individuals. The most severe and rarest form of MKD is called mevalonic aciduria, while the most typical type is referred to as hyperimmunoglobulinemia-D syndrome. Based on new research and clinical progress, this review explores more treatment options for MKD.
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