Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.
Carnitine is required for entry of long chain fatty acids into mitochondria where beta-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 palmitoyl-transferase acyl-CoA dehydrogenases, electron transfer flavoprotein, and 3-ketoacyl-CoA-thiolase. The clinical features, diagnosis, and treatment of these conditions are described.
Angelini
C
C
Regional Neuromuscular Center, University of Padova, Italy.
Vergani
L
L
Martinuzzi
A
A
D001693:Biological Transport, Active; D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction; D014804:Vitamin B Deficiency / Q000378:metabolism*
D005227:Fatty Acids; D002331:Carnitine