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Article

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Pediatrics - 1 Feb 2003

Prietsch Viola, Mayatepek Ertan, Krastel Hermann, Haas Dorothea, Zundel Dorothee, Waterham Hans R, Wanders Ronald J A, Gibson K Michael, Hoffmann Georg F

Abstract excerpt

OBJECTIVE: Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in...

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PMID: 12563048
DOI: 10.1542/peds.111.2.258

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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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