Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.
The analysis of acylcarnitines as products of incubation of intact fibroblasts with isotope-labelled precursors, usually (16-(2)H(3))hexadecanoic acid, is an advanced in vitro method for the study of mitochondrial beta-oxidation defects. We propose a technique for the measurement of the organic acid intermediates after hydrolysis of the acylcarnitines using electron-impact gas chromatography-mass spectrometry. For some mitochondrial beta-oxidation deficiencies, the characteristic profile enables us to approach the diagnosis with clear differentiation.
Osorio
J H
JH
Institut Bioquímica Clínica, Corporació Sanitària Clínic, 08028 Barcelona, Spain.
Lluch
M
M
Ribes
A
A
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D002331:Carnitine / Q000378:metabolism; D002460:Cell Line; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D010084:Oxidation-Reduction; D019308:Palmitic Acid / Q000378:metabolism*; D014316:Tritium
D014316:Tritium; D019308:Palmitic Acid; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine