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Introduction: 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.
Objective: The objective of the present study was to analyse the oxidation rate of tritiated substrates by fibroblasts from patients suffering OCTN2 deficiency and controls.
Materials and methods: 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.
Results: We found depressed the oxidation of tritiated substrates in fibroblasts from patients suffering the deficiency of OCTN2 in more than 60%.
Conclusion: This modified technique enables us the in vitro diagnosis or primary carnitine deficiency.

José Henry Osorio, Universidad de Caldas

Departamento de Ciencias Básicas de las Salud, Laboratorio de Patología Molecular, Universidad de Caldas, Manizales, Colombia.
Osorio, J. H. (2008). Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency. Colombia Medica, 39(4), 323–327.


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