A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.
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.
Seargeant
L E
LE
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Balachandra
K
K
Mallory
C
C
Dilling
L A
LA
Greenberg
C R
CR
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
D005227:Fatty Acids; D019308:Palmitic Acid