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Diagnstico de la deficiencia de hidroxi-acil CoA deshidrogenasa de cadena larga, mediante la incubacin de fibroblastos con cido [9,10)(n)-3h] palmtico y cido [9,10)(n)-3h] mirstico

Jos Henry Osorio

Journal Title:Investigaciones ANDINA

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.