Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

doi:10.1016/j.nmd.2009.02.007

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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

Neuromuscular disorders : NMD - 1 May 2009

Laforêt Pascal, Acquaviva-Bourdain Cécile, Rigal Odile, Brivet Michèle, Penisson-Besnier Isabelle, Chabrol Brigitte, Chaigne Denys, Boespflug-Tanguy Odile, Laroche Cécile, Bedat-Millet Anne-Laure, Behin Anthony, Delevaux Isabelle, Lombès Anne, Andresen Brage S, Eymard Bruno, Vianey-Saban Christine

Abstract excerpt

Very Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation (FAO) most often occurring in childhood with cardiac or liver involvement, but rhabdomyolysis attacks have also been reported in adults. We report in this study the clinical, biochemical and molecular studies in 13 adult patients from 10 different families with VLCAD deficiency. The enzyme...

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PMID: 19327992
DOI: 10.1016/j.nmd.2009.02.007

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