palmitoyltransferase ISynonyms Carnitine o-palmitoyltransferase; CPT-I ; CPT-A ; Outer membrane carnitine palmitoyl transferase; Acylcarnitine transferase; Palmitoylcarnitine transferase Definition and Characteristics CPT I (carnitine palmitoyltransferase I) (EC 2.3.1.21), which is loosely associated with 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。
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...
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%
Carnitine palmitoyltransferase 2 deficiency (CPT2 deficiency, OMIM # 608836) is a disorder of the fatty acid uptake and mitochondrial transport system, also known as the carnitine cycle or the carnitine shuttle. The carnitine shuttle involves (1) cellular uptake of the long-chain fatty acids by ...
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...
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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...
carnitine palmitoyltransferase deficiencyallele‐specific oligonucleotidemutation(s)muscle diseaseR. Thomas TaggartDivision of Genetics, Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New YorkDavid Smail...
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...