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REVIEW ARTICLE

Treatment advances in mevalonate kinase deficiency: A comprehensive review

Chenxi Li1 ,  Xilong Tang2 ,  Xiangyuan Chen1* ,  Ping Zeng1
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1 Department of Allergy, Immunology and Rheumatology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China
2 Department of Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
EJMO, 025160137 https://doi.org/10.36922/EJMO025160137
Received: 20 April 2025 | Revised: 17 May 2025 | Accepted: 4 June 2025 | Published online: 3 July 2025
© 2025 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution -Noncommercial 4.0 International License (CC-by the license) ( https://creativecommons.org/licenses/by-nc/4.0/ )
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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
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.
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Eurasian Journal of Medicine and Oncology, Electronic ISSN: 2587-196X Print ISSN: 2587-2400, Published by AccScience Publishing
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