Carnitine palmitoyltransferase 1A deficiency (CPT1A deficiency, OMIM # 255120) is a disorder of the fatty acid uptake and mitochondrial transport system, also known as the carnitine cycle or the carnitine shuttle. Carnitine palmitoyltransferase 1A (EC 2.3.1.21) is embedded in the outer mitochondrial ...
Carnitine Palmitoyltransferase Type I Deficiency Carnitine palmitoyltransferase I(CPT-I) is responsible for covalently linking LCFAs such as palmitate to carnitine. Although one patient with deficiency of CPT-I presented in the newborn period, most come to attention in early to late infancy (Roe and...
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res. 1994;36(5):582-8.Bergman AJ,Donckerwolcke RA,Duran M, et al (1994) Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 36 : 582–588....
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 palmitoyltransferase I in the outer... J Bremer - 《J Clin Chem Clin Biochem》 被引量: 150发表: 1990年 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least...
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Carnitine palmitoyltransferase I. Carnitine palmitoyltransferase I.Palmitate oxidation by liver mitochondria from rats treated with D-galactosamine (GaIN) was markedly inhibited. 3 h after ... Sire,Oliver,Mangeney,... - 《European Journal of Biochemistry》 被引量: 0发表: 1983年 Fatty Acids ...
Carnitine palmitoyltransferase I (CPTI) deficiency is thought to cause serious disorders of fatty acid metabolism. The nucleotide sequences of cDNA and genomic DNA encoding human CPTI have been characterized [45,46]. However, a relationship between disease and mutation of the human CPTI gene has no...
Carnitine palmitoyltransferase I (CPT I) catalyzes the formation of acylcarnitine, the first step in the oxidation of long-chain fatty acids in mitochondri... N Brown - 《Journal of Lipid Research》 被引量: 132发表: 2001年 Carnitine palmitoyltransferase I deficiency in neonate identified by dried...
Carnitine palmitoyltransferase I (CPTI) deficiency is thought to cause serious disorders of fatty acid metabolism. The nucleotide sequences of cDNA and genomic DNA encoding human CPTI have been characterized [45,46]. However, a relationship between disease and mutation of the human CPTI gene has no...