Early diagnosis of FAODs is crucial for effective management. Newborn screening programs often include tests for various FAODs using a blood sample taken shortly after birth. Further diagnostic tests may include:
Blood tests to measure levels of specific fatty acids and acylcarnitines Genetic testing to identify mutations in the genes responsible for fatty acid oxidation Urine tests to check for abnormal organic acids Enzyme assays to measure the activity of specific enzymes involved in fatty acid oxidation
