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{{medical}}
{{Infobox_Disease
| Name           = 精氨基琥珀酸尿症
| Image          = Argininosuccinic acid.svg
| Caption        = [[argininosuccinate]]
| DiseasesDB     =
| ICD10          = {{ICD10|E|72|2|e|70}}
| ICD9           = {{ICD9|270.6}}
| ICDO           =
| OMIM           = 207900
| MedlinePlus    =
| eMedicineSubj  =
| eMedicineTopic =
| MeshID         =
}}
'''精氨基琥珀酸尿症'''是一種[[遺傳性疾病]]，使[[氨]]積聚在[[血液]]內。由於氨是有毒的，尤其對[[神經系統]]造成破壞，精氨基琥珀酸尿症在出生數天便會發現。

患有精氨基琥珀酸尿症的初生嬰兒會昏昏欲睡及食慾不振，[[呼吸頻率]]及[[溫度調節]]會較差，且會[[癲癇]]或不正常的身體活動，甚至會[[昏迷]]。較嚴重的會有發育不良及[[智能障礙]]，逐步對[[肝臟]]的損害、皮膚損害、頭髮變得易斷亦會出現。即時的治療及正衡的生活（嚴謹的飲食及藥物控制）可以阻止上述的問題。

間中地，因疾病或壓力可以同樣導致氨積聚在血液內，出現較輕的病徵。

== 流行病學 ==
約每70,000個初生嬰兒中，便會有1人患上精氨基琥珀酸尿症。

== 遺傳學 ==
精氨基琥珀酸尿症的成因是精氨基琥珀酸裂解基因的[[突變]]，屬於稱為[[尿素循環代謝障礙]]的遺傳疾病。[[尿素循環]]是在[[肝臟]][[細胞]]內進行的一連串[[化學反應]]，將身體內因使用[[蛋白質]]而產生過多的[[氮]]，製成為[[尿素]]，並由[[腎臟]]排出體外。

精氨基琥珀酸尿症就是因負責尿素循環其中一個步驟的[[精氨基琥珀酸裂解酶]]受到破壞或是短缺，使得尿素循環不能正常運作，過多的氮便以[[氨]]的形式積聚在[[血液]]內。氨會破壞[[神經系統]]，所以精氨基琥珀酸尿症會導致神經學上的問題及最後破壞肝功能。

精氨基琥珀酸尿症是[[染色體]]隱性遺傳的，即兩個隱性[[基因]]同時存在（稱為「雙隱性」）才會發病。一般來說，父母各自都是帶有一個隱性基因而沒有任何病徵。

== 內部連結 ==
*[[尿素循環]]
*[[精氨基琥珀酸裂解酶]]

== 參考 ==
{{refbegin|2}}
* {{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
* {{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
* {{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
* {{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 ''[https://web.archive.org/web/20041210014424/http://www.nutrition.org/cgi/content/full/134/10/2775S Full text]''
* {{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
* {{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 | url=https://archive.org/details/sim_journal-of-pediatrics_1980-09_97_3/page/492 | journal=J Pediatr | year=1980 | pages=492-7 | volume=97 | issue=3 }} PMID 7411317
{{refend}}

{{Amino acid metabolic pathology}}
{{尿素循环}}

[[Category:氨基酸代谢紊乱]]
[[Category:常染色体隐性遗传疾病]]
[[Category:罕見疾病]]