ABSTRACT

A number of genetic disorders affecting every stage of fatty acid oxidation (FAO) have been identified. The most common manifestations are fasting-induced hypoglycaemia and, less commonly, life-threatening coma. The research findings indicate chronic cardiomyopathy and muscle weakness. Less frequently, evidence of rhabdomyolysis is observed. The initial symptoms may manifest at various stages, ranging from the neonatal period to adulthood. The diagnosis of this condition is facilitated by detecting elevated levels of abnormal acylcarnitines, which can be measured by tandem mass spectrometry. During periods of acute illness, initiating intravenous fluid therapy containing dextrose is recommended to suppress lipolysis. In long-term treatment, the most significant aspect is the prevention of prolonged fasting. This review aims to provide information on the clinical findings, diagnosis, and treatment methods of FAO disorders.