Study of very long chain acyl-CoA dehydrogenase (VLCAD) with cardiomyopathy using a deuterated substrate

Abstract

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.

Keywords

• Ácidos Grasos
• Metabolismo
• β-Oxidación Mitocondrial
• Fatty Acids
• Metabolism
• Mitochondrial β-Oxidación
• Ácidos Gordurosos
• β-Oxidação Mitocondrial