Abstract

OSORIO, José Henry. COMPARISON OF TWO TECHNIQUES AS CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY DIAGNOSIS TOOLS. Biosalud [online]. 2012, vol.11, n.1, pp.17-24. ISSN 1657-9550.

Objective: to compare two laboratory diagnosis techniques for carnitine acylcarnitine translocase deficiency, a rare inherited autosomal recessive disorder in fatty acid oxidation. Materials and methods: fibroblasts of patients and controls were incubated with tritiated substrates and deuterated substrates. Results: a severe depression for oxidizing the tritiated substrates was observed for the fibroblasts of patients with this disease; however it was not possible to establish a characteristic profile for the diagnosis of the disease using deuterated substrates. Conclusion: the incubation of fibroblasts using tritiated substrates constitutes a good tool for laboratory diagnosis of patients suffering carnitine-acylcarnitine translocase deficiency, in contrast, incubation with deuterated substrates does not.

Keywords : fatty acids; carnitine; metabolism; inborn errors of metabolism; fibroblasts; isotope labeling.

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