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Article

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.

Pediatric rheumatology online journal - 22 Nov 2021

Omoyinmi Ebun, Rowczenio Dorota, Sebire Neil, Brogan Paul A, Eleftheriou Despina

Abstract excerpt

BACKGROUND: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variety of non-specific clinical manifestations, which can lead to diagnostic delay. We report the case of a child presenting with vasculitis that was found by genetic testing to...

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Identifiers

PMID: 34809655
DOI: 10.1186/s12969-021-00645-8
PMCID: PMC8607720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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