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.