title: A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.
abstract: We report that measurement of whole-blood palmitate oxidation is a rapid and inexpensive screening test for fatty acid oxidation defects. The assay has been adapted from published assays using cultured fibroblasts or isolated white blood cells. Micro whole-blood samples are incubated with tritiated palmitic acid as substrate. The tritiated water produced is proportional to the mitochondrial beta-oxidation of palmitic acid. Patients with confirmed beta-oxidation defects show low whole-blood palmitate oxidation.
authors.affiliation: Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
authors.forename: L E
authors.initials: LE
authors.lastname: Seargeant
authors.forename: K
authors.initials: K
authors.lastname: Balachandra
authors.forename: C
authors.initials: C
authors.lastname: Mallory
authors.forename: L A
authors.initials: LA
authors.lastname: Dilling
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
mesh_terms: D000293:Adolescent; D002478:Cells, Cultured; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism; D008297:Male; D010084:Oxidation-Reduction; D019308:Palmitic Acid / Q000097:blood*; D012189:Retrospective Studies
chemical_list: D005227:Fatty Acids; D019308:Palmitic Acid