Al Kaabi EH, El-Hattab AW. N-acetylglutamate synthase deficiency: novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. Mol Genet Metab Rep 2016;8:94-8. PMID 27570737 Asai K, Ishii S, Ohta S, Furusho K. Fatal hyperammonemia in arginino...
N-乙酰谷氨酸合酶缺陷是英文N-acetylglutamate synthase deficiency的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止N-乙酰谷氨酸合酶缺陷在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于代谢病。
1975 N -Acetylglutamate synthase of Escherichia coli : regulation of synthesis and activity by arginine. J. Biol. Chem. 250 , 1690–1693.Leisinger, T. & Haas, D. ( 1975 ) N -Acetylglutamate synthase of Escherichia coli regulation of synthesis and activity by arginine , J. Biol. Chem. ...
英文名称:N-acetyl-L-cysteine 保存条件:4℃ 抗氧化剂NAC(N-乙酰半胱氨酸) 英文名:N-acetyl-L-cysteine 规格:2g 产地:国产|进口 编号:YT305 本品是一种常用的抗氧化剂。有报道可以抑制神经细胞的凋亡,但可以诱导平滑肌细胞凋亡。可以抑制hiv复制。溶解于水,加热后在水中的溶解度可以达到100mg/ml。
N-氨甲酰谷氨酸是N-氨甲酰谷氨酸合成酶(N-acetylglutamatesynthase,NAGS)及5-羧基-吡咯啉合成酶的代谢变构激活剂,但是在哺乳仔猪的小肠粘膜和肝脏的线粒体中由于甲酰谷氨酸合成酶的不足致使N-氨甲酰谷氨酸的合成量不足,因此,N-氨甲酰谷氨酸可能在调节哺乳仔猪小肠合成瓜氨酸和精氨酸的过程中发挥着重要作用。含N...
1) N-acetylglutamate synthase N-乙酰谷氨酸合成酶1. Objective This study was conducted to investigate the mechanism for the reduction of endogenous arginine synthesis by profiling the developmental expression pattern of intestinal N-acetylglutamate synthase(NAGS)in pre-weaned Tibetan piglets. 【目的】...
Caldovic L, Morizono H, Panglao M, Cheng S, Packman S, Tuchman M (2003). "Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia".Hum Genet112(4): 364-8. PMID 12594532. Categories:Metabolic disorders|Inborn errors of metabolism ...
N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAGS enzyme. NAG is essential for the activity of...
Arginine biosynthesis in Corynebacterium glutamicum consists of eight enzymatic steps, starting with acetylation of glutamate, catalysed by N-acetylglutamate synthase (NAGS). There are different kinds of known NAGSs, for example, “classical” ArgA, bifu
-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and from...