Abstract

OSORIO, José Henry. Diagnosis Long-chain hydroxy acyl-CoA dehydrogenase deficiency, by fibroblasts incubation with [9, 10)(N)-³H] palmitic and [9,10)(N)-³H] miristic acids. Investig. andina [online]. 2013, vol.15, n.26, pp.693-699. ISSN 0124-8146.

Introduction: long-chain hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency, is an autosomal recessive metabolic disease, characterised by acidosis, hypoglycaemia, cardiomyopathy, liver damage, and rhabdomyolysis. Objective: to analyse the oxidation rate of tritiated substrates in fibroblasts of patients suffering the deficiency and controls. Methods: fibroblasts from patients and controls were incubated with [³H]-palmitate and [³H]-miristate and the oxidation of these substrates were measured in nmol/ hour/mg protein. Results: it was found depressed oxidation of tritiated substrates in fibroblasts from patients suffering the deficiency, with a oxidation rate of 43% and 48% for palmitate and miristate respectively. Conclusion: this modified technique enables us the in vitro diagnosis or long-chain hydroxy acyl-CoA dehydrogenase.

Keywords : ß-Oxidation; Fatty Acids; Metabolism.

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