Study of very long chain acyl-CoA dehydrogenase (VLCAD) with cardiomyopathy using a deuterated substrate
DOI:
https://doi.org/10.17533/udea.iatreia.15098Keywords:
Fatty Acids, Metabolism, Mitochondrial β-OxidaciónAbstract
Introduction: Deficiency of VLCAD is present in the early months of life, with hypertrophic or dilated cardiomyopathy and arrhythmias which may be lethal.
Objective: To analize the production of metabolites in fibroblasts from patientes with VLCAD deficiency and cardiomyopathy incubated with deuterated oleic acid.
Materials and methods: Fibroblasts from four patients with VLCAD deficiency and cardiomyopathy and from ten controls were incubated in the presence of deuterated oleic acid.
Results and conclusison: A characteristic profile was found in the fibroblastos of patients with VLCAD after the described incubation. This test could be used to confirm VLCAD deficiency with cardiomyopathy.
Downloads
Downloads
Published
How to Cite
Issue
Section
License
Papers published in the journal are available for use under the Creative Commons license, specifically Attribution-NonCommercial-ShareAlike 4.0 International.
The papers must be unpublished and sent exclusively to the Journal Iatreia; the author uploading the contribution is required to submit two fully completed formats: article submission and authorship responsibility.
