Article
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Frontiers in immunology - 1 Jan 2024
Lengvári Lilla, Takács Kata, Lengyel Anna, Pálinkás Annamária, Wouters Carine Helena, Koné-Paut Isabelle, Kuemmerle-Deschner Jasmin, Jeyaratnam Jerold, Anton Jordi, Lachmann Helen Jane, Gattorno Marco, Hofer Michael, Toplak Nataša, Weiser Peter, Kallinich Tilmann, Ozen Seza, Hentgen Véronique, Uziel Yosef, Horváth Zsuzsanna, Szabados Márton, Brogan Paul, Constantin Tamás, Frenkel Joost
Abstract excerpt
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK 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...
Topics
- Mevalonate Kinase Deficiency
- Humans
- Mutation
- Phosphotransferases (Alcohol Group Acceptor)
- Practice Guidelines as Topic