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...

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Bibliographic Details

Main Authors:	Alice Burleigh, Ovgu Kul Cinar, Paul Torpiano, Marcia A. Munoz, Charlotte Abell-King, Michael J. Rogers, Despina Eleftheriou, Paul A. Brogan
Format:	Artigo
Language:	Inglês
Published:	Frontiers Media S.A. 2026-01-01
Series:	Frontiers in Pediatrics
Subjects:	mevalonate kinase deficiency protein prenylation autoinflammation genetics clinical diagnostics inflammasome
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1666672/full
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