Clinical and biochemical aspects of carnitine deficiency and insufficiency: Transport defects and inborn errors of βoxidation

Carnitine is required for entry of long chain fatty acids into mitochondria where βoxidation occurs. Primary carnitine deficiency, due to a generic defect in cellular carnitine transport, exists in myopathic and systemic forms. Secondary carnitine deficiency may be due to multiplicity of inherited abnormalities, including deficiencies in carnitine palmitoyltransferase acyl-CoA dehydrogenases, electron transfer flavoprotein, and 3-ketoacyl-CoA-thiolase. The clinical features, diagnosis, and treatment of these conditions are described. © 1992 Informa UK Ltd.