Yoo Han-Wook
Department of Pediatrics and Medical Genetics & Genomics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
J Lipid Atheroscler. 2021 Jan;10(1):1-7. doi: 10.12997/jla.2021.10.1.1. Epub 2020 Dec 1.
Mitochondrial fatty acid β-oxidation (mFAO), which is the major pathway for the degradation of fatty acids and is critical for maintaining energy homeostasis in the human body, consists of carnitine transport, the carnitine shuttle, and fatty acid β-oxidation. Inherited metabolic defects of mFAO result in more than 15 distinct mFAO disorders (mFAODs) with varying clinical manifestations. The common elements of the clinical presentation of mFAODs are hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis, indicating the importance of FAO during fasting or stressful situations. The management of all mFAODs includes avoidance of fasting, aggressive treatment during illness, and supplementation of carnitine or appropriate nutritional support, if necessary. Through the introduction of newborn screening using tandem mass spectrometry, early identification of mFAODs became feasible, leading to an early initiation of treatment with improved outcomes. However, many unmet needs remain with regard to the long-term management of patients with mFAODs.
线粒体脂肪酸β氧化（mFAO）是脂肪酸降解的主要途径，对维持人体能量稳态至关重要，它由肉碱转运、肉碱穿梭和脂肪酸β氧化组成。mFAO的遗传性代谢缺陷会导致15种以上不同的mFAO障碍（mFAODs），临床表现各异。mFAODs临床表现的共同特征是低酮性低血糖、（心脏）肌病、心律失常和横纹肌溶解，这表明禁食或应激状态下脂肪酸氧化的重要性。所有mFAODs的管理措施包括避免禁食、患病期间积极治疗，必要时补充肉碱或给予适当的营养支持。通过引入串联质谱新生儿筛查，mFAODs的早期识别变得可行，从而能够早期开始治疗并改善预后。然而，在mFAODs患者的长期管理方面仍有许多未满足的需求。
