Fatty Acid Oxidation disorders

Abstract

Fatty Acid Oxidation (FAO) disorder is an important group of inborn errors of metabolism. Clinical features develop during periods of fasting, because fatty acids are the major source of fuel. When diagnosed and treated early, they can be managed with simple dietary advice and can live a full life. If the physician is not aware of the features of FAO disorders, this may be mistaken as Reye syndrome or sadly parents may be blamed with the diagnosis of Munchausen Syndrome by Proxy. Any child with recurrent hypoglycaemia without ketones or with unexplained neuromuscular disorders or cardiomyopathy needs to be evaluated for FAO disorders.