Study of patients with type II glutaric aciduria by incubation of fibroblasts with tritiated palmitic and myristic acids
DOI:
https://doi.org/10.17533/udea.iatreia.10547Keywords:
Fatty Acids, Glutaric aciduria type II, Metabolic disorders, Mitochondrial β -oxidation, Multiple dehydrogenase deficiencyAbstract
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.
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