Inflammation and Oxidative Damage in Fatty Acids Oxidation Disorders

Deficiencies in enzymes and transporters involved in mitochondrial fatty acid beta oxidation results in the accumulation of fatty acids, a condition known as fatty acid oxidation disorders (FAODs). Therefore, the present study aimed to evaluate the oxidative and inflammatory profiles of treated patients with FAODs, comparing those receiving dietary treatment and l-carnitine supplementation with one untreated FAOD patient, to provide new insights into the pathophysiology and treatment of this group of diseases. Samples from 12 treated FAOD patients, 18 age-matched controls, and one untreated patient at diagnosis were included in the study. Levels of 8-isoprostanes, DNA and RNA oxidative damage, nitrite and nitrate, cathepsin D and cytokines were measured in urine and/or plasma samples, depending on the analyte, of FAODs patients under treatment (mean: 3.0 ± 2.9 years) and of an untreated patient with increased levels of several organic acids, who was included as an illustrative case and not considered in the statistical analyses. Levels of 8-isoprostanes, nitrite and nitrate, DNA damage, and interleukins 1β, 8, and 10 did not differ significantly between treated patients and control group, whereas IL-6 levels were increased in FAODs patients. These findings indicate that treated FAOD patients presented oxidative and inflammatory biomarker levels similar to those of controls for most analytes, while IL-6 remained elevated. The results suggest a potential beneficial effect of current treatment on oxidative and inflammatory profiles.