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 remains fascinating. Three distinct clinical entities have been described, the adult, the ...
肉碱棕榈酰基转移酶II缺乏症的英文名字是Carnitine Palmitoyltransferase II Deficiency。基因解码表明:佳学基因通过基因解码发现:肉碱棕榈酰基转移酶II缺乏症是由基因突变引起的。这种疾病是由于基因CPT2的突变导致肉碱棕榈酰基转移酶II的功能缺陷,从而影响脂肪酸的氧化代谢。这种基因突变可以是遗传的,也可以是新生突变。
Article: Carnitine palmitoyl transferase ii deficiency with normal carnitine palmitoyl transferase i in skeletal muscle and leukocytes
Deficiency of carnitine palmitoyltransferase II (CPT II), was found to be the cause of the syndrome of muscle pain 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...
Novel muta- tions associated with carnitine palmitoyltransferase II defi- ciency. Hum Mutat 1999;13:210-220.Taggart RT, Smail D, Apolito C, Vladutiu GD (1999) Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 13: 210-220....
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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. ...
The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mut...
It also occurs in carnitine palmitoyltransferase II, which catalyzes carnitine derivatives into acyl coenzyme A. Cardiomyopathy can be the presenting manifestation of these carnitine-deficiency states. Cardiac function is normal in heterozygous carnitine deficiency. Carnitine deficiency results in the ...
Carnitine acyl-carnitine translocase deficiency Carnitine palmitoyltransferase II deficiency Very long-chain acyl-CoA dehydrogenase deficiency Long-chain acyl-CoA dehydrogenase deficiency Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency Trifunctional protein deficiency Medium-chain acyl-CoA d...