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- Ruoyi Ishikawa, Takamichi Sugimoto, Takafumi Abe, Narumi Ohno, Taku Tazuma, Mayumi Giga, Hiroyuki Naito, Tomoyuki Kono, Eiichi Nomura, Keiichi Hara, Tohru Yorifuji, and Takemori Yamawaki.
- Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan.
- Intern. Med. 2022 May 1; 61 (9): 1387-1392.
AbstractA 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging (MRI) showed atrophy of the brain parenchyma. One the second occasion, the patient suffered severe impairment of consciousness, and because of seizures and glossoptosis, mechanical ventilation was started. Urea cycle disorders (UCDs) were assumed to be involved. Genetic testing revealed a monoallelic mutation of the carbamoyl phosphate synthase 1 (CPS1) gene. When transient hyperammonemia of unknown cause occurs repeatedly in adults, an active investigation for UCDs should be conducted.
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