Article
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
Proceedings of the National Academy of Sciences of the United States of America - 7 Nov 1995
Strauss A W, Powell C K, Hale D E, Anderson M M, Ahuja A, Brackett J C, Sims H F
Abstract excerpt
beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart. Defects in enzymes of the beta-oxidation pathway cause sudden, unexplained death in childhood, acute hepatic encephalopathy or liver failure, skeletal myopathy, and cardiomyopathy. Very-long-chain acyl-CoA dehydrogenase [VLCAD; very-long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase, EC 1.3.99.13] catalyzes the first step in...
Topics
- Acyl-CoA Dehydrogenase, Long-Chain
- Base Sequence
- Cardiomyopathies
- DNA, Complementary
- Death, Sudden
- Exons
- Female
- Humans
- Infant
- Male
- Mitochondria