Melnyk A R, Matalon R, Henry B W, Zeller W P, Lange C
Department of Pediatrics, Loyola University Chicago Stritch School of Medicine, Maywood, Illinois 60062.
J Pediatr. 1993 Jan;122(1):96-8. doi: 10.1016/s0022-3476(05)83497-3.
A patient with neonatal citrullinemia caused by severe deficiency of argininosuccinate synthetase was treated prospectively according to the currently accepted protocol. We gradually reduced the doses and then discontinued treatment with sodium benzoate and phenylacetate; blood glutamine levels were maintained in the normal range, but ammonia was mildly elevated. Growth and development progressed normally through 31 months of age. Some patients with citrullinemia can be successfully managed without daily sodium benzoate and phenylacetate therapy.
一名因精氨琥珀酸合成酶严重缺乏导致新生儿瓜氨酸血症的患者，按照目前公认的方案进行了前瞻性治疗。我们逐渐减少苯甲酸钠和苯乙酸钠的剂量，然后停止治疗；血液谷氨酰胺水平维持在正常范围内，但氨水平略有升高。该患者生长发育在31个月龄前进展正常。一些瓜氨酸血症患者无需每日接受苯甲酸钠和苯乙酸钠治疗也可成功管理。
