Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

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Article

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...

Topics

Abnormalities, Multiple
Cerebellar Ataxia
Failure to Thrive
Female
Humans
Infant
Intellectual Disability
Lovastatin
Male
Mevalonic Acid
Phenotype
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)
Prednisone

Source

Open in PubMed

Identifiers

PMID: 8386351

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8386351-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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