Presentation description

Inborn Fatty Acid Oxidation Disorders (FAOD) are a result of pathogenic genetic mutations that encode for enzymes that are involved in the fatty-acid oxidation pathway. The estimated collective evidence of FAOD is one in 5,000-10,000 births. Due to their inability to properly break down fatty acids, FAOD patients present a wide-range of health issues. One of the main health complications that occurs due to FAOD is cardiomyopathy, which puts FAOD patients at greater risk for heart failure. Despite advances in treatment of FAOD, mortality due to heart failure remains high in severe cases. The purpose of this research is to improve the healthcare of FAOD patients by understanding the role of ceramides in FAOD. Since Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is the most common type of FAOD, our study consisted of VLCADD patients. Preliminary data suggests that the accumulation of ceramides puts VLCADD patients at a higher risk for heart failure when compared to healthy patients. By probing for accumulating lipotoxins as standard practice, physicians can improve the efficiency and quality of care for FAOD patients, rather than waiting for a cardiac event.