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

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 administrat...

Topics

Acyl-CoA Dehydrogenases
Female
Humans
Infant
Male
Molecular Biology
Mutation
Polymerase Chain Reaction

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