Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590122 | PMC |
| http://dx.doi.org/10.3389/fimmu.2024.1466844 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
Turk J Pediatr
September 2025
Division of Pediatric Rheumatology, Department of Pediatrics, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, İstanbul, Türkiye.
Background: We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF).
Methods: This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpaşa Medical Faculty between 2016 and 2024.
Results: Of 33 patients, 51.
Structural insights into Leishmania donovani mevalonate kinase and its interaction with toll-like receptors during early infection.
Acta Trop
August 2025
Department of Molecular Parasitology, ICMR - National Institute for Research in Bacterial Infections, Kolkata, 700 010, India. Electronic address:
Leishmania donovani mevalonate kinase (LdMVK) is crucial for isoprenoid and sterol biosynthesis, making it a potential target for both drugs and vaccines. Structural and immunological studies revealed its stability (pI 9.22, aliphatic index 89.
View Article and Find Full Text PDFMevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.
J Neuropathol Exp Neurol
July 2025
Department of Pathology, University of Utah, Salt Lake City, UT, United States.
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Pediatr Rheumatol Online J
July 2025
Department of Clinical Immunology and Allergy, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Background: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease, and mevalonic aciduria (MA) is a severe phenotype of MKD. The present study reports the characteristics of MKD and four novel mutations in the mevalonate kinase (MVK) gene in a Chinese cohort.
Method: A retrospective study was conducted on patients diagnosed with MKD from July 2013 to December 2024.
The haplotype-resolved telomere-to-telomere genome and OMICS analyses reveal genetic responses to tapping in rubber tree.
Nat Commun
July 2025
State Key Laboratory of Tropical Crop Breeding, Ministry of Agriculture and Rural Affairs Key Laboratory of Biology and Genetic Resources of Rubber Tree, Rubber Research Institute, Chinese Academy of Tropical Agricultural Sciences, Haikou, China.
Rubber tree (Hevea brasiliensis) is the primary source of natural rubber and economically important. We present the haplotype-resolved, telomere-to-telomere, gap-free genome assembly of the cultivar CATAS 7-33-97, with both haplotypes containing complete telomeric and centromeric regions. Structural variations, including a 32.
View Article and Find Full Text PDF