Resumen

OSORIO, José Henry; RIBES, Antonia  y  LLUCH, Montse. In vitro diagnosis of primary carnitine deficiency. Acta bioquím. clín. latinoam. [online]. 2008, vol.42, n.2, pp. 245-250. ISSN 1851-6114.

Carnitine transporter (OCTN2) is required for the mitochondrial metabolism of long-chain fatty acids. Primary carnitine deficiency is a consequence of its deficiency. The objective of the present study was to analyse the fatty acids produced by fibroblasts incubated with deuterated substrates, using gas chromatography-mass spectrometry as a diagnostic tool for the diagnosis of VLCAD deficiency. A characteristic profile for this deficiency was found using this technique which enables its in vitro diagnosis.

Palabras llave : Carnitine transporter; Primary carnitine deficiency; Gas-chromatography-mass spectrometry.