Nasser M., Javaheri H., Fedorowicz Z., et al.: Carnitine supplementation for inborn errors of metabolism. Cochrane Database Syst Rev 2012; 2: CD006659.Nasser M, Javaheri H, Fedorowicz Z, Noorani Z (2009) Carnitine sup- plementation for inborn errors of metabolism. Cochrane Database ...
Concentrations of l-carnitine and acylcarnitines have been determined in urine from patients with disorders of organic acid metabolism associated with an i... RA Chalmers,CR Roe,TE Stacey,... - 《Pediatric Research》 被引量: 420发表: 1984年 Treatable inborn errors of metabolism causing intellectu...
Inborn Errors of Metabolism Advances in Clinical Chemistry Book series2016,Advances in Clinical Chemistry FatihEzgu Explore book 1.6.2.3Carnitine and Acylcarnitines Carnitineis very important for transportation of long-chain fatty acids across theinner mitochondrial membranefacilitating the proper function of...
Other inborn errors of metabolism or genetic disorders may cause secondary carnitine deficiency because of impairment of carnitine biosynthesis secondary to increased urinary losses of lysine, which occurs in lysinuric protein intolerance. Increased urinary loss of carnitine associated with Fanconi syndrome ...
l-Carnitine 1 occurs naturally as an essential cofactor of fatty acid metabolism which is synthesised endogenously or obtained from dietary sources. In pat
Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism J. Lawrence MerrittII, Renata C. Gallagher, in Avery's Diseases of the Newborn (Tenth Edition), 2018 Carnitine Acylcarnitine Translocase Deficiency CACT is one of the more severe FAODs, and the most...
Deficiencies of carnitine palmitoyltransferases (CPT) 1 and 2 are inborn errors of carnitine metabolism. CPT1 and CPT2 are integral components of the “carnitine shuttle” transporting long-chain fatty acids (LCFA) into mitochondria for fatty acid β-oxidation (FABO). The deficiency of either CPT...
Carnitine is easy to administer, has low toxicity, and is routinely used in neonates as well as children with epilepsy, cardiomyopathy, and inborn errors of metabolism. l-Carnitine merits further investigation as a treatment modality for the asphyxiated newborn or as prophylaxis for the at-risk ...
The estimated safe and adequate daily carnitine intake for adults is 150-500 mumol/day whereas pharmacological doses of carnitine are required for the treatment of hereditary carnitine deficiency. 展开 关键词: Animals Humans Metabolism, Inborn Errors Deficiency Diseases Carnitine Nutritional Requirements ...
Commercially, carnitine has been promoted to improve exercise performance, enhance a sense of well-being, and to aid weight loss.1 Oral and IV L-carnitine has been approved by the FDA for treatment of primary and secondary carnitine deficiency as a result of inborn errors of metabolism. IV L...