Phosphomevalonate kinase deficiency expands the genetic spectrum of systemicautoinflammatory diseases
Introduction: In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in 2 subsequent enzyme steps by MVK and PMVK to generate mevalonate pyrophosphate that is further metabolized to produce sterol and nonsterol isoprenoids. Biallelic pathogenic variants in MVK result in the autoinflammatory [for full text, please go to the a.m. URL]
Institutions
- Danube Private University (AT)
- Universität Innsbruck (AT)
- Amsterdam Neuroscience (NL)
- St Anna Children's Hospital (AT)
- Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (AT)
- Amsterdam University Medical Centers (NL)
- Community College of Rhode Island (US)
- University of Amsterdam (NL)
Publication Details
- Journal
- German Medical Science (German Research Foundation)
- Published
- 2024-09-18
- DOI
- https://doi.org/10.3205/24dgrh109
- Primary Topic
- Forest Ecology and Biodiversity Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00