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A patient with type II citrullinemia who developed refractory complex seizure
General Hospital Psychiatry, 05/04/2012
Sakamoto S et al. – A 31–year–old Japanese male was admitted to the authors' hospital for refractory complex seizures. He had no history on medical or psychiatric illness. He began to exhibit aberrant behavior accompanied by cloudiness of consciousness. Thereafter, he exhibited partial seizures followed by a twilight state or abnormal behavior. Accumulations of citrulline and ammonia and a reduction of arginine are noted in argininosuccinate synthetase deficiency, which results in the sudden emergence of consciousness disturbance and abnormal behavior.
