Genetic disorders of carnitine metabolism and their nutritional management.

摘要: Carnitine functions as a substrate for family of enzymes, carnitine acyltransferases, involved in acyl-coenzyme A metabolism and carrier long-chain fatty acids into mitochondria. biosynthesis and/or dietary fulfill the body's requirement carnitine. To date, genetic disorder has not been described. defect high-affinity plasma membrane carnitine-carrier(in) leads to renal wasting primary deficiency. Myopathic deficiency could be due an increase efflux moderated by carnitine-carrier(out). Defects transport system mitochondria have described are being examined at molecular pathophysiological levels. nutritional management these disorders includes high-carbohydrate, low-fat diet avoidance those events that promote acid oxidation, such fasting, prolonged exercise, cold. Large-dose treatment is effective systemic