Defects of fatty acid oxidation in skeletal muscle.
Fatty acids are important substrates for resting and exercising skeletal muscle. Defects of fatty acid oxidation result in muscle pain and weakness, and there is often lipid accumulation in muscle fibres. Only a few of the several possible enzyme defects have been found and some of these have responded to therapy. Some techniques for the investigation of fatty acid oxidation are outlined.
D000214:Acyl Coenzyme A / Q000378:metabolism; D002331:Carnitine / Q000172:deficiency; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D002851:Chromatography, High Pressure Liquid; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005227:Fatty Acids / Q000378:metabolism*; D005977:Glutarates / Q000378:metabolism; D007700:Kinetics; D008052:Lipid Metabolism, Inborn Errors; D008931:Mitochondria, Muscle / Q000378:metabolism*; D010084:Oxidation-Reduction
D000214:Acyl Coenzyme A; D005227:Fatty Acids; D005977:Glutarates; D044943:Fatty Acid Desaturases; D002334:Carnitine O-Palmitoyltransferase; C035736:glutaric acid; D002331:Carnitine