Resumo

OSORIO, José Henry. IN VITRO STUDY OF VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY WITH MUSCULAR INVOLVEMENT. Biosalud [online]. 2015, vol.14, n.1, pp.44-50. ISSN 1657-9550.  https://doi.org/10.17151/biosa.2015.14.1.5.

Introduction: In vitro studies for searching intermediates of mitochondrial fatty acid degradation, are a tool for diagnosis of hereditary or adquire alterations of the above mentioned metabolic pathway. Objective: To analize the metabolite production in fibroblasts from patientes with very long chain acyl-CoA deficiency and muscular involvement incubated with deuterated oleic acid. Materials and Methods: Fibroblasts of three patients with very long chain acyl-CoA deficiency and cardiomyopathy and ten control were incubated with deuterated oleic acid. Results: It was found a characteristic profile after incubation of fibroblats with this deficiency. Conclusion: This substrate could be used to perform in vitro diagnosis of VLCAD deficiency with musclar involvement.

Palavras-chave : fatty acids; metabolism; mitochondrial B-oxidación.

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