Watson A J, Chambers T, Karp J E, Risch V R, Walker W G, Brusilow S W
Lancet. 1985 Dec 7;2(8467):1271-4. doi: 10.1016/s0140-6736(85)91554-5.
Transient severe hyperammonaemia developed in the absence of serious liver dysfunction in three patients being treated for acute leukaemia. The onset of the biochemical disturbance was abrupt and led rapidly to acute encephalopathy, fatal in two cases. In the third patient, prompt initiation of aggressive haemodialysis and intravenous sodium benzoate and sodium phenylacetate infusion successfully controlled plasma ammonium levels until they spontaneously resolved. The cause of the disorder remains to be determined, but urinary nitrogen partition studies suggest temporary impairment of ureagenesis in a catabolic setting as a major pathophysiological feature of this disorder. The absence of liver disease, the normal mitochondrial ultrastructure seen in two cases, and the plasma aminoacid profiles observed serve to distinguish this disorder from others such as Reye's syndrome.
三名急性白血病患者在无严重肝功能障碍的情况下出现了短暂性严重高氨血症。生化紊乱的发作很突然，并迅速导致急性脑病，其中两例死亡。在第三名患者中，迅速开始积极的血液透析，并静脉输注苯甲酸钠和苯乙酸钠，成功控制了血浆铵水平，直至其自行恢复。该病症的病因尚待确定，但尿氮分配研究表明，在分解代谢状态下尿素生成的暂时受损是该病症的主要病理生理特征。无肝脏疾病、两例患者线粒体超微结构正常以及观察到的血浆氨基酸谱有助于将该病症与其他病症（如瑞氏综合征）区分开来。
