In vitro diagnosis of primary carnitine deficiency

作者：Henry Osorio Jose; Ribes Antonia; Lluch Montse

来源：Acta Bioquimica Clinica Latinoamericana, 2008, 42(2).

• Carnitine transporter
• Primary carnitine deficiency
• Gas-chromatography-mass spectrometry

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.

• 出版日期2008-6