Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency
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DOI：
10.1097/smj.0b013e31816bf5cc
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发表时间：
2008-05-01
影响因子：
1.1
通讯作者：
Blanke, Charles D.
中科院分区：
文献类型：
--
作者：
Chan, Joseph S.;Harding, Cary O.;Blanke, Charles D.
一位接受化疗的年轻肝癌患者出现脑病。对患者的评估显示其代谢特征与鸟氨酸转甲氨基甲酰化酶（OTC）缺乏症一致，这是一种遗传性尿素循环疾病。评估结果显示血浆氨基酸分析与OTC缺乏症一致。然而，遗传分析并未显示该患者OTC基因的体细胞突变。高氨血症脑病可通过输注精氨酸逆转，精氨酸是遗传性OTC缺乏症的常用治疗方法。本病例可能代表肝细胞癌患者可逆性高氨血症的独特综合征。
A young patient with hepatocellular carcinoma receiving chemotherapy presented with encephalopathy. Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. The evaluation yielded a plasma amino acid analysis consistent with OTC deficiency. However, genetic analysis did not reveal a somatic mutation of the OTC gene in this patient. The hyperammonemic encephalopathy was reversed by the infusion of arginine, a common treatment for hereditary OTC deficiency. This case may represent a distinct syndrome of reversible hyperammonemia in patients with hepatocellular carcinoma.