Fatty Acid Oxidation in Peripheral Blood Cells: Characterization and Use for the Diagnosis of Defects of Fatty Acid Oxidation

Broad specificity of carnitine palmitoyltransferase II towards long‐chain acyl‐CoA β‐oxidation intermediates and its practical approach to the synthesis of various long‐chain acylcarnitines

“…Long-chain fatty acid β-oxidation defects involving 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) or mitochondrial trifunctional protein (MTP) (Pollitt 1995) are characterized by abnormal urinary organic acids and specific plasma acylcarnitine profile during crises (Dorland et al 1995). The same atypical acylcarnitine esters have also been found in in vitro studies comprising the incubation of patient's cells (Nada et al 1995;Schaefer et al 1995) with long-chain fatty acids. An explanation for the finding of these abnormalities might be that the different acyl-CoA esters that accumulate within the mitochondrial matrix are exported to the cytosol in the acylcarnitine form.…”

“…The same atypical acylcarnitine esters have also been found in in vitro studies comprising the incubation of patient's cells (Nada et al 1995;Schaefer et al 1995) with long-chain fatty acids. An explanation for the finding of these abnormalities might be that the different acyl-CoA esters that accumulate within the mitochondrial matrix are exported to the cytosol in the acylcarnitine form.…”

Carnitine: a nutritional, biosynthetic, and functional perspective

“…Any acyl-CoA which is a substrate either for mitochondrial CAT or CPT-II can be converted to their respective carnitine esters and can be exchanged with cytosolic free carnitine via the CACT. This has been demonstrated with isolated mitochondria, mimicking ischemic conditions (Watmough et al, 1988;Eaton et al, 1996a,b) as well as with cultured fibroblast and lymphocytes from patients with established deficiencies in mitochondrial fatty acid oxidation (Schaefer et al, 1995;Nada et al, 1995). In cases of inborn errors of fatty acid oxidation, this is manifested in the appearance of specific carnitine esters in blood and the identification of these carnitine esters provides the diagnostic tool for the precise identification of the metabolic defect .…”

Recent developments in the detection of inherited disorders of mitochondrial β-oxidation

“…In all cases, the diagnosis was confirmed by direct enzyme analysis. A similar approach utilizing peripheral blood cells has also been developed [13].…”