COMPARACIóN DE DOS TéCNICAS COMO HERRAMIENTA DIAGNóSTICA DE LA DEFICIENCIA DE CARNITINA ACILCARNITINA TRANSLOCASA

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.