Abstract

OSORIO, José Henry. Study of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency with cardiomyopathy using a deuterated substrate. Iatreia [online]. 2014, vol.27, n.4, pp.410-416. ISSN 0121-0793.

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 : Fatty Acids; Metabolism; Mitochondrial β-Oxidation.

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