Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant

Mevalonate kinase deficiency (MKD) is a systemic autoinflammatory disease caused by biallelic mutations in MVK. Individuals with MKD present with a recurrent fever syndrome, often including a skin rash, gastrointestinal symptoms and lymphadenopathy. The severity depends on the residual enzyme activi...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Alice Burleigh, Ovgu Kul Cinar, Paul Torpiano, Marcia A. Munoz, Charlotte Abell-King, Michael J. Rogers, Despina Eleftheriou, Paul A. Brogan
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-01-01
Serie:	Frontiers in Pediatrics
Soggetti:	mevalonate kinase deficiency protein prenylation autoinflammation genetics clinical diagnostics inflammasome
Accesso online:	https://www.frontiersin.org/articles/10.3389/fped.2025.1666672/full
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!