Study of very long chain acyl-CoA dehydrogenase (VLCAD) with cardiomyopathy using a deuterated substrate
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 deu...
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| Format: | Article |
| Language: | Spanish |
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Universidad de Antioquia
2014-10-01
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| Series: | Iatreia |
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| Online Access: | http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/15098/17394 |
| Summary: | 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. |
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| ISSN: | 0121-0793 2011-7965 |