Article
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Pediatric research - 1 Jan 1992
Coates P M, Indo Y, Young D, Hale D E, Tanaka K
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common autosomal recessive disorder of mitochondrial fatty acid oxidation characterized by episodes of hypoketotic hypoglycemia usually beginning in the first 2 y of life. We previously showed, in pulse labeling experiments, that the bios...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenase, Long-Chain
- Fibroblasts
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Immunoblotting
- Immunochemistry
- Lipid Metabolism, Inborn Errors
- Mutation