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 β β-oxidation of palmitic acid. Patients with confirmed β-oxidation defects show low whole-blood palmitate oxidation.