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...
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile 上传人:jmywd·上传时间:2016-02-29 0% 0% 0% 0% 0%
A neonate at risk for hepatic carnitine palmitoyltransferase I (L-CPT I) deficiency was investigated from birth. The free carnitine and acylcarnitine profile in dried whole blood filter paper samples collected at ages 1 and 4 days showed a markedly elevated concentration of free carnitine (141 and...
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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...
Human carnitine palmitoyltransferase (CPT) deficiency results in 2 clinical forms: a more common "muscular form" with myoglobinuria with or without delayed... I Tein,F Demaugre,JP Bonnefont,... - 《Journal of the Neurological Sciences》 被引量: 66发表: 1989年 加载更多来源...
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...
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...
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。