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Article

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.

Pediatrics - 1 Feb 2012

Ruiz Gomez Angeles, Couce María Luz, Garcia-Villoria Judit, Torres Angeles, Baña Souto Ana, Yagüe Jordi, Vilaseca María Antonia, Ribes Antonia, Aróstegui Juan I

Abstract excerpt

Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. MA is an early-onset disorder characterized by a marked failure to thrive, diverse neurologic symptoms, dysmorphic features, and recurrent febrile episodes. However, significant clinical differences have been reported in the few cases published to date. Here we...

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Source

Identifiers

PMID: 22271696
DOI: 10.1542/peds.2010-2192

Genes

MVK

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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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