Article
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
Internal medicine (Tokyo, Japan) - 1 May 2022
Ishikawa Ruoyi, Sugimoto Takamichi, Abe Takafumi, Ohno Narumi, Tazuma Taku, Giga Mayumi, Naito Hiroyuki, Kono Tomoyuki, Nomura Eiichi, Hara Keiichi, Yorifuji Tohru, Yamawaki Takemori
Abstract excerpt
A 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....
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