Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate

被引：44
作者：
Caldovic, L
Morizono, H
Daikhin, Y
Nissim, I
McCarter, RJ
Yudkoff, M
Tuchman, M
机构：
[1] George Washington Univ, Childrens Natl Med Ctr, Childrens Res Inst, Washington, DC 20010 USA
[2] Childrens Hosp Philadelphia, Div Metab Dis, Philadelphia, PA USA
[3] Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA
来源：
JOURNAL OF PEDIATRICS | 2004年 / 145卷 / 04期
关键词：
D O I：
10.1016/j.jpeds.2004.06.047
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：552 / 554
页数：3
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