Disturbances in fatty acid oxidation

Fatty acid oxidation defects involve various recessive autosomal enzyme deficiencies. Energy deficiency is likely to be the main pathogenic mechanism. Clinically, heterogeneous phenotypes of different severity and age of onset exist. Prevalent clinical symptoms are hypoketotic hypoglycemia, cardiomyopathy, skeletal myopathy and episodic rhabdomyolysis. Symptoms are mainly induced by infections with fever, prolonged fasting or physical activity. Before the screening era, morbidity and mortality were rather high. Since the introduction of neonatal screening for these disorders, patients are usually diagnosed in the presymptomatic state with a marked increase in discase prevalence. Treatment measures consist of avoidance of fasting, sufficient carbohydrate intake during catabolism and, for long-chain fatty acid oxidation and carnitine cycle defects, of a fat-reduced and fat-modified diet.