Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.
Open Access
- 1 September 1995
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood: Fetal & Neonatal
- Vol. 73 (2) , F103-F105
- https://doi.org/10.1136/fn.73.2.f103
Abstract
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.Keywords
This publication has 5 references indexed in Scilit:
- Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.Published by Elsevier ,2021
- Identification of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Three Patients Previously Diagnosed with Long-Chain Acyl-CoA Dehydrogenase DeficiencyPediatric Research, 1993
- A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA DehydrogenaseBiochemical and Biophysical Research Communications, 1993
- Beta-oxidation of long-chain fatty acids by human fibroblasts: Evidence for a novel long-chain acyl-coenzyme a dehydrogenaseBiochemical and Biophysical Research Communications, 1992
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyPediatric Research, 1991