A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE

被引：50
|
作者：
GUFFON, N
VIANEYSABAN, C
BOURGEOIS, J
RABIER, D
COLOMBO, JP
GUIBAUD, P
机构：
[1] HOP NECKER ENFANTS MALAD,BIOCHIM LAB,PARIS 15,FRANCE
[2] UNIV BERN,DEPT CLIN CHEM,BERN,SWITZERLAND
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1995年 / 18卷 / 01期
关键词：
D O I：
10.1007/BF00711374
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate three or four times a day with a total dose of 80-100 mg/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.
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收藏
页码：61 / 65
页数：5
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