Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children

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.