Abstract

OSORIO, José Henry. Study of very long chain acyl-CoA deshydrogenase with hypoglycemia. Acta bioquím. clín. latinoam. [online]. 2014, vol.48, n.1. ISSN 0325-2957.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) is considered a rate-limit-ing enzyme in a very-long-chain fatty acid beta-oxidation system. Based on clinical presentation three phenotypes have been reported for this deficien-cy, as follows: VLCAD-C presenting cardiomiopathy, VLCAD-H characterized by episodes of hypoglycemia, and VLCAD-M including episodes of myopathy with rhabdomyolysis. In vitro studies, searching for intermediates of mitochondrial fatty acid degradation, are a tool for diagnosis of inherited or acquired alterations of this enzyme activity. The present work analizes the metabolite production in fbroblasts from patientes with VLCAD-H deficiency, incubated with deuterated oleic acid. Fibroblasts from ten controls and fve patients with VLCAD deficiency with hypoglycemia (VLCAD-H) were incubated in the presence of deuterated oleic acid. A characteristic profle was found after incuba-tion of fbroblasts with this deficiency. D²C_12:1 values were similar between patients and controls, while values of D²C_14:1 and D²C_16:1 were significantly higher in the fbroblasts of patients. Therefore, this substrate could be used for in vitro diagnosis of VLCAD-H deficiency.

Keywords : fatty acids; metabolism; mitochondrial b-oxidation.

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