Taroni F, Uziel G
Department of Biochemistry and Genetics, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Curr Opin Neurol. 1996 Dec;9(6):477-85. doi: 10.1097/00019052-199612000-00015.
Mitochondrial fatty acid beta-oxidation is a major source for energy production, particularly at times of stress or fasting. Inborn errors of fatty acid oxidation have emerged during the past decade as important inherited causes of severe metabolic disturbances, including hypoketotic hypoglycaemia, cardiomyopathy, skeletal muscle myopathy, and childhood sudden death. Since the first description in 1973, at least 14 different genetic defects of mitochondrial fatty acid metabolism have been recognized. Our current understanding of the basic biochemistry, clinical presentations, and molecular bases of fatty acid oxidation disorders is reviewed.
线粒体脂肪酸β氧化是能量产生的主要来源，尤其是在应激或禁食期间。在过去十年中，脂肪酸氧化的先天性缺陷已成为严重代谢紊乱的重要遗传原因，包括低酮性低血糖、心肌病、骨骼肌肌病和儿童猝死。自1973年首次描述以来，已确认至少14种不同的线粒体脂肪酸代谢遗传缺陷。本文综述了我们目前对脂肪酸氧化障碍的基本生物化学、临床表现和分子基础的理解。
