title: Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.
abstract: In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in mitochondrial fatty acid oxidation. Diagnosis is usually done by gas-chromatographic analysis of urine, which may give difficulties, since urinary abnormalities may only be present intermittently. We therefore studied whether leukocytes could be used to study mitochondrial beta-oxidation directly. The results described herein show that leukocytes are able to beta-oxidize octanoate and palmitate. Furthermore, clear abnormalities in octanoate beta-oxidation were found in leukocytes from patients with an established deficiency of medium-chain acyl-CoA dehydrogenase, suggesting that measurement of octanoate and palmitate beta-oxidation in leukocytes may contribute to rapid diagnosis of medium-chain acyl-CoA dehydrogenase deficiency and presumably other mitochondrial beta-oxidation disorders.
authors.affiliation: Department of Pediatric Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
mesh_terms: D020155:3-Hydroxybutyric Acid; D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000652:urine; D002210:Caprylates / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology*; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction / Q000187:drug effects; D010168:Palmitates / Q000378:metabolism; D013997:Time Factors
chemical_list: D002210:Caprylates; D005227:Fatty Acids; D006885:Hydroxybutyrates; D010168:Palmitates; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; C031492:octanoic acid; D020155:3-Hydroxybutyric Acid