翻訳と辞書 Words near each other ・ N-acetylglucosamine deacetylase ・ N-acetylglucosamine kinase ・ N-Acetylglucosamine receptor ・ N-acetylglucosamine-1-phosphate transferase ・ N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ・ N-acetylglucosamine-6-phosphate deacetylase ・ N-acetylglucosamine-6-sulfatase ・ N-acetylglucosaminyl-diphospho-decaprenol L-rhamnosyltransferase ・ N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ・ N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ・ N-acetylglucosaminyldiphosphoundecaprenol glucosyltransferase ・ N-acetylglucosaminyldiphosphoundecaprenol N-acetyl-beta-D-mannosaminyltransferase ・ N-acetylglucosaminylphosphatidylinositol deacetylase ・ N-acetylglucosaminyltransferase I ・ N-Acetylglutamate synthase ・ N-Acetylglutamate synthase deficiency ・ N-acetylglutamate synthetase ・ N-Acetylglutamic acid ・ N-Acetylglycinamide ・ N-acetylhexosamine 1-dehydrogenase ・ N-acetylhexosamine 1-kinase ・ N-Acetyllactosamine ・ N-acetyllactosamine synthase ・ N-acetyllactosaminide 3-alpha-galactosyltransferase ・ N-acetyllactosaminide alpha-2,3-sialyltransferase ・ N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase ・ N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase ・ N-Acetylmannosamine ・ N-Acetylmescaline ・ N-Acetylmuramic acid Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク N-Acetylglutamate synthase deficiency ： ウィキペディア英語版 N-Acetylglutamate synthase deficiency N-Acetylglutamate synthase (or synthetase) deficiency is an autosomal recessive urea cycle disorder. ==Mechanism== Carbamoyl phosphate synthase I is an enzyme found in mitochondrial matrix and it catalyzes the very first reaction of the Urea cycle, in which carbamoyl phosphate is produced. Carbamoyl Phosphate Synthase 1, abbreviated as CPS1, is activated by its natural activator N-Acetyl glutamate, which in turn is synthesized from acetyl-CoA and glutamic acid in the reaction catalyzed by N-Acetyl glutamate synthase, commonly called NAGS. N-Acetyl Glutamate is required for the Urea cycle to take place. Deficiency in N-Acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme, will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called ''Type I Hyperammonemia''. This is a severe neonatal disorder with fatal consequences, if not detected immediately upon birth. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「N-Acetylglutamate synthase deficiency」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.