Abstract

OSORIO OROZCO, José Henry. Study of patients with type II glutaric aciduria by incubation of fibroblasts with tritiated palmitic and myristic acids. Iatreia [online]. 2011, vol.24, n.3, pp.267-271. ISSN 0121-0793.

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.

Keywords : Fatty Acids; Glutaric aciduria type II; Metabolic disorders; Mitochondrial β -oxidation; Multiple dehydrogenase deficiency.

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