Carnitine O-PalmitoyltransferaseMetabolism, Inborn Errors代谢缺陷, 先天性Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remain
Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. Three distinct clinical entities have been described, the adult, the infantile, and the perinatal, all with an autosomal recessive inheritance ...
Deficiency of carnitine palmitoyltransferase II (CTP II), was the cause of the muscle pain syndrome and myoglobinuria following strenuous exercise in an otherwise healthy young man. During fasting, serum creatine kinase remained low and ketogenesis was normal. The clearance of a fat emulsion and ...
Carnitine Palmitoyltransferase II Deficiency 来自 ResearchGate 喜欢 0 阅读量: 22 作者: T Wieser 摘要: Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are: lethal neonatal form, severe infantile hepatocardiomuscular ...
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...
Disorders such as glutaric aciduria type II or carnitine palmitoyltransferase II (CPT-II) deficiency can present with dysmorphic features, such as mid-facial hypoplasia and frontal bossing (Zellwegerlike phenotype) and congenital abnormalities of the abdominal wall. ...
17. Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR 1998 A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63:110– 115 18. Battaile KP, Nguyen TV, Vockley J, Kim JJ 2004 Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex...
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Carnitineacyl-carnitinetranslocasedeficiency Carnitine palmitoyltransferase II deficiency Very long-chain acyl-CoAdehydrogenasedeficiency Long-chain acyl-CoA dehydrogenase deficiency Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency Trifunctionalprotein deficiency ...