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A simple screening test for fatty acid oxidation defects using whole‐blood palmitate oxidation
Author(s) -
Seargeant L. E.,
Balachandra K.,
Mallory C.,
Dilling L. A.,
Greenberg C. R.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005500318194
Subject(s) - palmitic acid , whole blood , beta oxidation , fatty acid , chemistry , biochemistry , chromatography , substrate (aquarium) , biology , immunology , ecology
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‐oxidation of palmitic acid. Patients with confirmed β‐oxidation defects show low whole‐blood palmitate oxidation.