@article{Osorio_2008, title={Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency.}, volume={39}, url={https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/614}, DOI={10.25100/cm.v39i4.614}, abstractNote={<strong><span style="font-weight: bold;">Introduction:</span></strong> The transport of carnitine into the cell is mediated by a high-affinity sodium-dependent plasmalemmal carnitine transporter, OCTN2. Carnitine is a zwitterion essential for the mitochondrial oxidation of long-chain fatty acids. Primary carnitine deficiency is a consequence of the deficiency of OCTN2. <br /> <strong><span style="font-weight: bold;">Objective:</span></strong> The objective of the present study was to analyse the oxidation rate of tritiated substrates by fibroblasts from patients suffering OCTN2 deficiency and controls. <br /> <strong><span style="font-weight: bold;">Materials and methods:</span> </strong>Fibroblasts from patients and controls were incubated with [3H]-palmitate and [3H]-miristate and the oxidation of these substrates were measured in nmol/hour/mg protein. <br /> <strong><span style="font-weight: bold;">Results:</span> </strong>We found depressed the oxidation of tritiated substrates in fibroblasts from patients suffering the deficiency of OCTN2 in more than 60%. <br /> <span style="font-weight: bold;"><strong>Conclusion:</strong> </span>This modified technique enables us the in vitro diagnosis or primary carnitine deficiency.}, number={4}, journal={Colombia Medica}, author={Osorio, José Henry}, year={2008}, month={Dec.}, pages={323–327} }