title: Carnitine deficiency, organic acidemias, and Reye's syndrome.
abstract: Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic acidemias. In acute clinical crises, carnitine serves as a "buffer," trapping toxic acyl compounds. Mitochondrial failure develops in carnitine deficiency when there is insufficient tissue carnitine available to buffer toxic acyl-CoA metabolites. Toxic levels of acyl-CoA impair the citrate cycle, gluconeogenesis, the urea cycle, and fatty-acid oxidation. Carnitine replacement therapy is safe and induces excretion of toxic acyl groups in the urine.
mesh_terms: D000143:Acids / Q000097:blood; D000214:Acyl Coenzyme A / Q000378:metabolism; D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D008659:Metabolic Diseases / Q000188:drug therapy / Q000209:etiology; D012202:Reye Syndrome / Q000209:etiology / Q000378:metabolism*
chemical_list: D000143:Acids; D000214:Acyl Coenzyme A; D002331:Carnitine