Use

The Fatty Acid Oxidation Probe Assay is used for the in vitro confirmation of biochemical diagnoses related to fatty acid oxidation disorders. These disorders include short-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine palmitoyl transferase deficiency type II, and carnitine-acylcarnitine translocase deficiency. Additionally, this test confirms organic acid disorders such as 2-methylbutyryl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency. It allows for the diagnosis of these disorders under controlled laboratory conditions to minimize the influence of dietary factors or patient’s clinical status on the results.