Schubiger G, Bachmann C, Barben P, Colombo J P, Tönz O, Schüpbach D
Children's Hospital, Lucerne, Switzerland.
Eur J Pediatr. 1991 Mar;150(5):353-6. doi: 10.1007/BF01955939.
We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families with this inborn error of metabolism had been observed. Our management consisted mainly of a protein-restricted diet and oral treatment with N-carbamylglutamate, an activator of carbamylphosphate synthetase, together with arginine or citrulline. The somatic development was normal whereas a moderate psychomotor retardation was diagnosed. The patient died after an episode of coma and prolonged generalized convulsions at the age of 9.5 years.
我们报告了一名患有N-乙酰谷氨酸合成酶缺乏症患者的9年随访情况，该疾病是一种尿素循环障碍，可导致严重的新生儿高氨血症。此前，已观察到来自两个家庭的两名患有这种先天性代谢缺陷的患者。我们的治疗主要包括限制蛋白质饮食，以及口服N-氨甲酰谷氨酸（一种氨基甲酰磷酸合成酶激活剂），同时服用精氨酸或瓜氨酸。患者的身体发育正常，但被诊断为中度精神运动发育迟缓。该患者在9.5岁时，经历一次昏迷和长时间全身性惊厥发作后死亡。
