Fatty Acid Oxidation Disorders

Abstract Mitochondrial fatty acid oxidation is a major energy‐providing pathway during fasting and prolonged exercise in man and a number of inherited disorders affecting this metabolic pathway are known. Defects of mitochondrial β‐oxidation typically cause severe crises associated with low blood glucose (hypoglycaemia) during infancy and childhood and are also a relatively frequent cause of muscle diseases and cardiac muscle disease. It is essential to recognize this group of disorders because of therapeutic and prenatal diagnostic opportunities.