Akademik Veri Yönetim Sistemi
European Journal of Pediatrics, cilt.184, sa.6, 2025 (SCI-Expanded)
Long-chain fatty acid oxidation disorders (LC-FAOD) are a rare metabolic condition that results in impaired fatty acid utilization, leading to metabolic crises, hospitalization, and reduced quality of life. Despite dietary management, many patients experience ongoing complications. Triheptanoin, a seven-carbon triglyceride, has emerged as a therapeutic alternative by providing an energy source and supporting metabolic stability. This study aims to evaluate the clinical outcomes of LC-FAOD patients receiving triheptanoin therapy in Türkiye. A retrospective nationwide study was conducted to analyze 14 patients with LC-FAOD who received oral triheptanoin as part of a compassionate use program in Türkiye. The study collected data on emergency department visits, hospitalizations, metabolic decompensation episodes, creatine kinase (CK) levels, hypoglycemia, and cardiac function. Additionally, patient-reported outcomes were assessed through surveys. The findings of the study demonstrated that triheptanoin treatment led to a significant reduction in the number of emergency service applications and hospitalizations per month (p < 0.01). A notable decrease in the frequency of myalgia attacks was observed, while the decline in rhabdomyolysis episodes did not reach statistical significance. Furthermore, creatine kinase levels during metabolic crises exhibited a substantial decrease following triheptanoin therapy (p < 0.0001).Among patients with cardiomyopathy, cardiac function showed improvement in four out of seven patients. Survey data indicated an improvement in appetite, physical performance, and overall quality of life. Conclusion: Triheptanoin treatment has been demonstrated to be associated with significant clinical improvements in patients diagnosed with LC-FAOD, including a reduction in the frequency of emergency department visits, hospitalizations, and metabolic crises. These findings provide support for the utilization of triheptanoin as a therapeutic approach that holds promise in the management of LC-FAOD. (Table presented.)