Article
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
Journal of inherited metabolic disease - 1 Oct 2007
Zia A, Kolodny E H, Pastores G M
Abstract excerpt
Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyses the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. Deficiency of VLCAD activity has been associated with a range of phenotypes, including a severe lethal form presenting in th...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
