N-氨甲酰谷氨酸对N-乙酰谷氨酸合成酶缺乏症患者尿素生成的恢复作用
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
作者信息
Caldovic Ljubica, Morizono Hiroki, Daikhin Yevgeny, Nissim Itzhak, McCarter Robert J, Yudkoff Marc, Tuchman Mendel
机构信息
Children's Research Institute, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.
出版信息
J Pediatr. 2004 Oct;145(4):552-4. doi: 10.1016/j.jpeds.2004.06.047.
In a patient with N-acetylglutamate synthase (NAGS) deficiency, incorporation of an isotopic label from ammonium chloride into urea was markedly reduced before treatment with N-carbamyl-L-glutamate (NCLG) and completely normalized following treatment. Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment.
在一名患有N-乙酰谷氨酸合酶（NAGS）缺乏症的患者中，在用N-氨甲酰-L-谷氨酸（NCLG）治疗前，氯化铵中同位素标记掺入尿素的量显著降低，治疗后完全恢复正常。治疗前摄入铵示踪剂后血氨升高，但治疗后保持在低水平。治疗后血清尿素浓度翻倍。
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