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Article

[Medium-chain acyl-CoA dehydrogenase deficiency: contribution of molecular biology].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Mar 1994

Cartier N, Lepetit N, Rocchiccioli F, Bougnères P F

Abstract excerpt

BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most frequent cause of defective congenital fatty acid oxidation. Its molecular characterization is now possible. Case n. 1. A girl, 15 month-old, was admitted because she suffered from fever and vomiting, requiring the administration of aspirin. One day later, she showed signs of drowsiness and hypotonia; her blood glucose concentration was 0.3...

Read the complete abstract on PubMed

Topics

Acyl-CoA Dehydrogenases
Female
Humans
Infant
Male
Molecular Biology
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Polymerase Chain Reaction

Source

Identifiers

PMID: 7994331

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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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