FATTY-ACID MITOCHONDRIAL BETA-OXIDATION AND HYPOGLYCEMIA IN CHILDREN

Mitochondrial fatty acid B-oxidation is a major source for energy prod uction, particularly at times of stress or fasting, Inborn errors of f atty acid oxidation have emerged during the past decade as important i nherited causes of severe metabolic disturbances, including hypoketoti c hypoglycaemia, cardiomyopathy, skeletal muscle myopathy, and childho od sudden death. Since the first description in 1973, at least 14 diff erent genetic defects of mitochondrial fatty acid metabolism have been recognized. Our current understanding of the basic biochemistry, clin ical presentations, and molecular bases of fatty acid oxidation disord ers is reviewed.