Abstract

OSORIO, José Henry; RIBES, Antonia  and  LLUCH, Montse. In vitro diagnosis of primary carnitine deficiency. Acta bioquím. clín. latinoam. [online]. 2008, vol.42, n.2, pp.245-250. ISSN 0325-2957.

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.

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

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