Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

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