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Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Pediatrics - 1 May 1993

Hoffmann G F, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson K M, Divry P, Hrebicek M, Lehnert W, Sartor K

Abstract excerpt

OBJECTIVE: Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients including attempts at therapeutic interventions. METHODS: Mevalonic...

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PMID: 8386351

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

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