Estudio de pacientes con aciduria glutarica tipo II, mediante la incubacion de fibroblastos con acidos palmitico y miristico tritiados / Study of patients with type II glutaric aciduria by incubation of fibroblasts with tritiated palmitic and myristic acids

RESUMEN

Introduccion: la aciduria glutarica tipo II, o deficiencia multiple de acil-CoA deshidrogenasas,es un trastorno causado por deficiencia de la flavoproteina de transferencia de electrones,de su oxidorreductasa o de ambas; se trata de una enfermedad metabolica autosomica recesiva, caracterizada por acidosis, hipoglicemia, aciduria organica, olor a pies sudados y malformaciones en cerebro y riñones. Objetivo: analizar las tasas de oxidacion de sustratos tritiados por fibroblastos de pacientescon aciduria glutarica tipo II. Materiales y metodos: se incubaron fibroblastos de dos pacientes con aciduria glutarica tipoII y de 20 controles en presencia de acidos palmitico y miristico tritiados. Resultados: se encontro muy deprimida (16%-18%) la oxidacion de los sustratos tritiados porlos fibroblastos procedentes de pacientes con aciduria glutarica tipo II en comparacion con los controles. Conclusion: la prueba estudiada permite la confirmacion in vitro del diagnostico de aciduriaglutarica tipo II.

ABSTRACT

Introduction: Glutaric aciduria type II (GA II), or multiple acyl-CoA dehydrogenase deficiency, is a disorder caused by deficiency of either electron transport flavoprotein or electron transport flavoprotein oxyreductase. It is an autsomal recessive metabolic disease, characterized by acidosis, hypoglycemia, organic aciduria, sweat-sock odour, and malformations in brain and kidneys. Objective: To analyse the oxidation rate of tritiated substrates by fibroblasts of patients with GA II. Materials and methods: Fibroblasts of two patients with GA II were incubated with tritiated palmitic and myristic acids. Results: Oxidation of tritiated substrates by fibroblasts of patients with GA II was very depressed (16%-18%) in comparison with controls. Conclusion: Diagnosis of GA II may be confirmed in vitro by the studied test.