The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder

• DOI: 10.1007/s00431-025-06216-3
• Publication Date: 2025-05-31T07:32:13Z
• Authors: Engin Köse; Aslı İnci; Havva Yazıcı; Tanyel Zübarioğlu; Sebile Kılavuz; Kısmet Çıkı; Esra Er; Mehmet Cihan Balcı; Ayça Burcu Kahraman; Neslihan Önenli M...; Çiğdem Aktuğlu Ze...; Sema Kalkan Uçar; Leyla Tümer; Fatma Tuba Eminoğlu
• Keywords: Creatine kinase

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