Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.

Abstract excerpt

Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is a disorder of mitochondrial fatty acid oxidation that is characterized by hypoglycemia, muscle weakness, and hepato- and cardiomegaly. To characterize variant LCAD, we first carried out preliminary experiments using pure enzyme preparations. Despite the significant sequence similarity of LCAD to medium-chain acyl-CoA dehydrogenase, the antibody raised against...

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase, Long-Chain
• Animals
• Cells, Cultured
• Fibroblasts
• Genetic Variation
• Humans
• Immunochemistry
• Lipid Metabolism, Inborn Errors
• Mutation