Department of Pathology & Laboratory Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
J Inherit Metab Dis. 2010 Oct;33(5):533-7. doi: 10.1007/s10545-010-9170-y. Epub 2009 Oct 10.
Mitochondrial fatty acid oxidation represents an important pathway for energy generation during periods of increased energy demand such as fasting, febrile illness and muscular exertion. In liver, the primary end products of the pathway are ketone bodies, which are released into the circulation and provide energy to tissues that are not able to oxidize fatty acids such as brain. Other tissues, such as cardiac and skeletal muscle are capable of direct utilization of the fatty acids as sources of energy. This article provides an overview of the pathogenesis of fatty acid oxidation disorders. It describes the different tissue involvement with the disease processes and correlates disease phenotype with the nature of the genetic defect for the known disorders of the pathway.
线粒体脂肪酸氧化是在能量需求增加的时期（如禁食、发热性疾病和肌肉运动）产生能量的重要途径。在肝脏中，该途径的主要终产物是酮体，它们被释放到循环中，并为不能氧化脂肪酸的组织（如大脑）提供能量。其他组织，如心脏和骨骼肌，可以直接利用脂肪酸作为能量来源。本文概述了脂肪酸氧化障碍的发病机制。它描述了不同组织与疾病过程的关系，并将疾病表型与已知途径遗传缺陷的性质相关联。
