Plecko B, Erwa W, Wermuth B
University Hospital Graz, Department of Paediatrics, Austria.
Eur J Pediatr. 1998 Dec;157(12):996-8. doi: 10.1007/s004310050985.
We report on a now 13-year-old girl, who presented with recurrent episodes of vomiting, psychotic behaviour and confusion during puberty until the diagnosis of partial N-acetylglutamate synthetase deficiency was established. She had suffered one prior unclear episode of acute vomiting, lethargy and somnolence at the age of 13 months, and from childhood onward had aversion to high protein food. Treatment with a protein-restricted diet and administration of phenylbutyrate as well as L-arginine were sufficient to normalize ammonia levels but glutamine concentrations remained high. Supplementation with N-carbamylglutamate rapidly improved her protein tolerance and reduced the need for co-medication. To our knowledge, so far only seven patients with N-acetylglutamate synthetase deficiency have been reported.
Partial N-carbamylglutamate deficiency has to be considered in the differential diagnosis of hyperammonaemia. If proven by enzyme determination in liver tissue, the disorder should be cautiously treated with N-carbamylglutamate.
我们报告了一名现年13岁的女孩，她在青春期出现反复呕吐、精神行为异常和意识模糊，直至确诊为部分N - 乙酰谷氨酸合成酶缺乏症。她在13个月大时曾有过一次不明原因的急性呕吐、嗜睡和昏睡发作，从童年起就厌恶高蛋白食物。采用蛋白质限制饮食、给予苯丁酸钠以及L - 精氨酸治疗足以使氨水平恢复正常，但谷氨酰胺浓度仍居高不下。补充N - 氨甲酰谷氨酸迅速改善了她对蛋白质的耐受性，并减少了联合用药的需求。据我们所知，迄今为止仅报道了7例N - 乙酰谷氨酸合成酶缺乏症患者。
在高氨血症的鉴别诊断中必须考虑部分N - 氨甲酰谷氨酸缺乏症。如果通过肝组织酶测定得以证实，应谨慎使用N - 氨甲酰谷氨酸对该疾病进行治疗。
