Internal Medicine 2018-Nov
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine was administered as a diagnostic treatment for urea cycle disorder (UCD) and serum ammonia, and her consciousness levels improved. She was diagnosed with ornithine transcarbamylase deficiency (OTCD) by analyses of plasma amino acids, urinary orotic acid, and the OTC gene mutation. UCD should be considered for patients with hyperammonemia without severe liver function abnormalities.