Inborn errors of mitochondrial fatty acid oxidation

Inborn errors of the mitochondrial beta-oxidation of long-chain fatty acids represent an evolving field of inherited metabolic disease. Fatty acid oxi dation defects demonstrate an abnormal response to the process of fasting a daptation and affect those tissues that utilize fatty acids as an energy so urce. These tissues include cardiac and skeletal muscle and liver. Muscle d irectly uses fatty acids as an energy source whilst hepatic metabolism of f atty acids is mostly directed toward the synthesis of ketone bodies for ene rgy utilization by tissues such as brain. The clinical phenotypes of fatty acid oxidation disorders include disease of one or more of these fatty acid -metabolizing tissues. In this review, we provide an overview of the pathwa y, discuss the disorders that are well established, and describe recent adv ances in the field. Currently available diagnostic procedures are criticall y evaluated.