Diagnóstico de la deficiencia de hidroxi-acil CoA deshidrogenasa de cadena larga, mediante la incubación de fibroblastos con ácido [9,10)(n)-3h] palmítico y ácido [9,10)(n)-3h] mirístico

Abstract

Introducción: la deficiencia de hidroxi-acil CoA deshidrogenasa de cadena larga, es una enfermedad metabólica autosómica recesiva, caracterizada por acidosis, hipoglicemia, cardiomiopatía, daño hepático y rabdomiólisis. Objetivo: analizar las tasas de oxidación de sustratos tritiados por fibroblastos de pacientes con deficiencia de hidroxi-acil-CoA deshidrogensa y controles. Métodos: fibroblastos de pacientes y controles se incubaron con [3H]-palmitato y [3H]-miristato y se determinó la oxidación de los mismos en nmol/h/mg proteína.
Resultados: se encontró deficiente la oxidación de sustratos tritiados por parte de los fibroblastos procedentes de los pacientes que presentaban la deficiencia, con una tasa de oxidación de 43 y 48% para palmitato y miristato respectivamente. Conclusión: esta técnica modificada permite el diagnóstico in vitro de la deficiencia de hidroxi-acil-CoA de cadena larga.

Abstract

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: β-Oxidation; Fatty Acids; Metabolism.

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