Treatment advances in mevalonate kinase deficiency: A comprehensive review

Abstract

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.

Keywords

Mevalonate kinase deficiency / Hyperimmunoglobulinemia-D syndrome / Treatment / Interleukin-1 / Interleukin-6

Acknowledgements

None.

Funding

This work was supported by the Traditional Chinese Medicine Bureau of Guangdong Province (NO: 20242067).

Conflict of interest

The authors declared that there are no conflicts of interest in this study.

Author contributions

Conceptualization:Chenxi Li Data curation: Ping Zeng

Writing–original draft: Chenxi Li

Writing–review & editing: Xilong Tang, Xiangyuan Chen

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Availability of data

Not applicable.

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