https://www.yiliao.com/index.php?action=history&feed=atom&title=%E7%B2%BE%E6%B0%A8%E5%9F%BA%E7%90%A5%E7%8F%80%E9%85%B8%E5%B0%BF%E7%97%87 2026-04-20T16:15:33Z 本wiki的该页面的版本历史 MediaWiki 1.35.1 https://www.yiliao.com/index.php?title=%E7%B2%BE%E6%B0%A8%E5%9F%BA%E7%90%A5%E7%8F%80%E9%85%B8%E5%B0%BF%E7%97%87&diff=306180&oldid=prev 2021-07-21T19:11:27Z

<p>建立内容为“{{Infobox_Disease | Name = {{PAGENAME}} | Image = Argininosuccinic acid.svg | Caption = <a href="/index.php?title=Argininosuccinate&amp;action=edit&amp;redlink=1" class="new" title="Argininosuccinate（页面不存在）">argininosuccinate</a> | DiseasesDB = | ICD10…”的新页面</p> <p><b>新页面</b></p><div>{{Infobox_Disease<br /> | Name = {{PAGENAME}}<br /> | Image = Argininosuccinic acid.svg<br /> | Caption = [[argininosuccinate]]<br /> | DiseasesDB =<br /> | ICD10 = {{ICD10|E|72|2|e|70}}<br /> | ICD9 = {{ICD9|270.6}}<br /> | ICDO =<br /> | OMIM = 207900<br /> | MedlinePlus =<br /> | eMedicineSubj =<br /> | eMedicineTopic =<br /> | MeshID =<br /> }}<br /> '''精氨基琥珀酸尿症'''是一种[[遗传性疾病]]，使氨积聚在[[血液]]内。由于氨是有毒的，尤其对[[神经系统]]造成破坏，精氨基琥珀酸尿症在出生数天便会发现。<br /> <br /> 患有精氨基琥珀酸尿症的初生婴儿会昏昏欲睡及[[食欲不振]]，呼吸频率及温度调节会较差，且会[[癫痫]]或不正常的身体活动，甚至会[[昏迷]]。较严重的会有发育不良及[[智能障碍]]，逐步对[[肝脏]]的损害、[[皮肤损害]]、头发变得易断亦会出现。即时的治疗及正衡的生活（严谨的饮食及药物控制）可以阻止上述的问题。<br /> <br /> 间中地，因疾病或压力可以同样导致氨积聚在血液内，出现较轻的病征。<br /> <br /> == [[流行病学]] ==<br /> <br /> 约每70,000个初生婴儿中，便会有1人患上精氨基琥珀酸尿症。<br /> <br /> == [[遗传学]] ==<br /> <br /> 精氨基琥珀酸尿症的成因是[[精氨基琥珀酸]]裂解[[基因]]的[[突变]]，属于称为[[尿素循环]][[代谢障碍]]的[[遗传疾病]]。尿素循环是在肝脏[[细胞]]内进行的一连串化学反应，将身体内因使用[[蛋白质]]而产生过多的氮，制成为[[尿素]]，并由[[肾脏]]排出体外。<br /> <br /> 精氨基琥珀酸尿症就是因负责尿素循环其中一个步骤的[[精氨基琥珀酸裂解酶]]受到破坏或是短缺，使得尿素循环不能正常运作，过多的氮便以氨的形式积聚在血液内。氨会破坏神经系统，所以精氨基琥珀酸尿症会导致[[神经学]]上的问题及最后破坏[[肝功能]]。<br /> <br /> 精氨基琥珀酸尿症是[[染色体]][[隐性遗传]]的，即两个[[隐性基因]]同时存在（称为“双隐性”）才会发病。一般来说，父母各自都是带有一个隐性基因而没有任何病征。<br /> <br /> == 内部连结 ==<br /> *[[尿素循环]]<br /> *[[精氨基琥珀酸裂解酶]]<br /> <br /> == 参考 ==<br /> <br /> {{refbegin|2}}<br /> * {{cite journal | author=Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG | title=Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families | journal=J Inherit Metab Dis | year=2002 | pages=399-410 | volume=25 | issue=5 }} PMID 12408190<br /> * {{cite journal | author=Lee B, Goss J | title=Long-term correction of urea cycle disorders | journal=J Pediatr | year=2001 | pages=S62-71 | volume=138 | issue=1 Suppl }} PMID 11148551<br /> * {{cite journal | author=Reid Sutton V, Pan Y, Davis EC, Craigen WJ | title=A mouse model of argininosuccinic aciduria: biochemical characterization | journal=Mol Genet Metab | year=2003 | pages=11-6 | volume=78 | issue=1 }} PMID 12559843<br /> * {{cite journal | author=Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B | title=Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism | journal=J Nutr | year=2004 | pages=2775S-2782S; discussion 2796S-2797S | volume=134 | issue=10 Suppl }} PMID 15465784 ''[http://www.nutrition.org/cgi/content/full/134/10/2775S Full text]''<br /> * {{cite journal | author=Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S | title=Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry | journal=J Inherit Metab Dis | year=2001 | pages=370-8 | volume=24 | issue=3 }} PMID 11486903<br /> * {{cite journal | author=Wilcken B, Smith A, Brown DA | title=Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies | journal=J Pediatr | year=1980 | pages=492-7 | volume=97 | issue=3 }} PMID 7411317<br /> {{refend}}<br /> <br /> {{Amino acid metabolic pathology}}<br /> {{尿素循环}}<br /> <br /> [[Category:氨基酸代谢紊乱]]<br /> <br /> [[Category:常染色体隐性遗传疾病]] [[Category:罕见疾病]]<br /> ==参考来源==<br /> *[http://zh.wikipedia.org/wiki/%E7%B2%BE%E6%B0%A8%E5%9F%BA%E7%90%A5%E7%8F%80%E9%85%B8%E5%B0%BF%E7%97%87 维基百科-精氨基琥珀酸尿症]</div>

123.130.221.191