Disorders of mitochondrial fatty acid oxidation and related metabolic pathways

Abstract

Fatty acid oxidation disorders have a high incidence in populations of European origin, though they are rarer in Asia. Many countries now have newborn screening programmes for these disorders. Before screening was introduced, the commonest clinical presentations were hypoketotic hypoglycaemia and sudden death, usually precipitated by an infection or fasting in the neonatal period or early childhood. Older children or adults may present with exercise-induced rhabdomyolysis. Patients can remain asymptomatic throughout life if they have mild defects and are not exposed to the necessary stress. Treatment should be tailored to the severity of the disorder.