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To help design rational diagnostic and therapeutic strategies, we studied the pathophysiology of accumulating metabolites in a whole\u2010cell system. Acylcarnitines were quantified in cells and media of cultured fibroblasts after incubation with L\u2010carnitine and fatty acids. Following incubation with palmitate, long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase (LCHAD)\u2010deficient fibroblasts compared with controls showed elevation of hydroxypalmitoyl\u2010 and palmitoylcarnitine and reduction of C<jats:sub>10<\/jats:sub>\u2010 and shorter acylcarnitines, and following incubation with linoleate an increase in C<jats:sub>14:2<\/jats:sub>\u2010, C<jats:sub>18:2<\/jats:sub>\u2010 and hydroxy\u2010C<jats:sub>18:2<\/jats:sub>\u2010acylcarnitines and reduction in C<jats:sub>10:1<\/jats:sub>\u2010acylcarnitines. Hydroxyacylcarnitines remained more intracellular compared to corresponding saturated acylcarnitines. Incubation with decanoate and octanoate showed absence of hydroxylated acylcarnitines and correction of secondary metabolic disturbances, suggesting that optimal treatment should include medium\u2010chain triglycerides of these chain lengths. Fibroblasts of patients with other fatty acid oxidation disorders showed distinct elevations of disease\u2010specific acylcarnitines. This acylcarnitine analysis allows the diagnosis of LCHAD deficiency and its differentiation from other fatty acid oxidation disorders, which can pose difficulties in vivo. The strategy has allowed in\u2010depth analysis with different substrates, providing suggestions for the rational design of treatment trials.<\/jats:p>","DOI":"10.1023\/a:1005694712583","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"27-44","source":"Crossref","is-referenced-by-count":55,"title":["Acylcarnitines in fibroblasts of patients with long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency and other fatty acid oxidation disorders"],"prefix":"10.1002","volume":"23","author":[{"given":"J. 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