TREATMENT OF INBORN-ERRORS OF UREA SYNTHESIS - ACTIVATION OF ALTERNATIVE PATHWAYS OF WASTE NITROGEN SYNTHESIS AND EXCRETION
TREATMENT OF INBORN-ERRORS OF UREA SYNTHESIS - ACTIVATION OF ALTERNATIVE PATHWAYS OF WASTE NITROGEN SYNTHESIS AND EXCRETION
复制标题
DOI：
10.1056/nejm198206103062303
复制
发表时间：
1982-01-01
影响因子：
158.5
通讯作者：
SCHAFER, IA
中科院分区：
文献类型：
--
作者：
BATSHAW, ML;BRUSILOW, S;SCHAFER, IA
先天性尿素合成错误的儿童会积累氨和其他含氮的尿素前体，导致发作性昏迷和高死亡率。在26例婴儿中，用废氮排泄的替代途径代替有缺陷的尿原途径。这些途径包括苯甲酸钠后的马鞭酸的合成和排泄，以及补充精氨酸后的瓜氨酸和精氨酸琥珀酸的合成和排泄。治疗7 ~ 62个月；22个活了下来。血浆中铵（+-）的平均水平。SE)为36。2 .mu。Mol /l，苯甲酸盐为1.5 +-。1.0 mg / dl。替代途径占总有效废氮排泄的28%至59%。19名婴儿身高、体重和头围正常，13名智力发育正常。激活废氮排泄的替代途径可以延长先天性尿素合成错误儿童的生存期并改善临床预后。
Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate. Alternative pathways for the excretion of waste nitrogen were used as substitutes for the defective ureagenic pathways in 26 infants. These pathways involve synthesis and excretion of hippurate after sodium benzoate administration, and of citrulline and argininosuccinate after arginine supplementation. The children were treated for 7-62 mo.; 22 survived. The mean plasma level of ammonium (.+-. SE) was 36 .+-. 2 .mu.mol/l, and that of benzoate was 1.5 .+-. 1.0 mg/dl. Alternative pathways accounted for between 28 and 59% of the total effective excretion of waste nitrogen. Nineteen infants had normal height, weight, and head circumference, and 13 had normal intellectual development. Activation of alternative pathways of waste nitrogen excretion can prolong survival and improve clinical outcome in children with inborn errors of urea synthesis.