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Analysis of organic acids after incubation with (16‐ 2 H 3 )palmitic acid in fibroblasts from patients with mitochondrial β‐oxidation defects
Author(s) -
Osorio J. H.,
Lluch M.,
Ribes A.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000009951.13315.66
Subject(s) - palmitic acid , incubation , chemistry , mass spectrometry , isotope , hydrolysis , biochemistry , beta oxidation , in vitro , mitochondrion , metabolism , chromatography , fatty acid , physics , quantum mechanics
Summary: 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 β‐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 β‐oxidation deficiencies, the characteristic profile enables us to approach the diagnosis with clear differentiation.