Clinical and Biochemical Aspects of Carnitine Deficiency and Insufficiency: Transport Defects and Inborn Errors of β-Oxidation

Abstract

Carnitine is required for entry of long chain fatty acids into mitochondria where β-oxidation 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.

Key Words::

• carnitine palmitoyltransferase
• carnitine-acyl-CoA dehydrogenase
• glutaric aciduria
• electron transfer flavoprotein
• 3-ketoactl-CoA-thiolase
• carnitine deficiency and insufficiency
• β-oxidation
• fatty acid transport and oxidation
• LCFA