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Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

Guidelines in the diagnosis and current dietary treatment of long‐chain fatty acid (LCFA) defects have been collected according to evidence‐based medicine. Since the identification of carnitine and carnitine palmitoyltransferase deficiency more than 25 years ago, nearly every enzymatic step required for β‐oxidation has been associated with an inherited metabolic disorder. These disorders effectively preclude the use of body fat as an energy source. Clinical consequences can range from no symptoms to severe manifestations including cardiomyopathy, hypoglycaemia, peripheral neuropathy and sudden death. A diet high in carbohydrates, diet with medium‐chain triglycerides and reduced amount of LCFA has a beneficial effect (class IV evidence) and in appropriate deficiency states carnitine and riboflavin are used (good practice points).