| Autor: |
Ishikawa R; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Sugimoto T; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Abe T; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Ohno N; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Tazuma T; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Giga M; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Naito H; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Kono T; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Nomura E; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan., Hara K; Department of Pediatrics and Institute for Clinical Research, NHO Kure Medical Center, Japan., Yorifuji T; Division of Pediatric Endocrinology and Metabolism, Osaka City General Hospital, Japan., Yamawaki T; Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan. |
| Abstrakt: |
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. 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. |
