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{'成人発症II型シトルリン血症で長期間経過が追えた1例を経験したので報告する.症例は68歳,男性.20歳台に発症し,一過性の意識障害,全身痙攣のエピソードを繰り返し,45歳に手指の振戦,意識障害のため精神科に入院した.高アンモニア血症,高シトルリン血症を呈し,成人型シトルリン血症と診断された.50歳以降は治療を自己中断したが,その後は大きなエピソードはなく長期間生存中である.遺伝子検査にてSLC25A13遺伝子の異常を認め,成人発症II型シトルリン血症と確定診断した.成人発症II型シトルリン血症は予後不良とされているが,本症例のように発症から約50年経過し,意識障害のエピソードから回復後,無治療および無症状で15年以上経過し得る症例が存在し,非常に稀と考えられ報告した.': [0]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2059961978', 'counts_by_year': [{'year': 2020, 'cited_by_count': 1}], 'updated_date': '2024-09-14T09:48:46.329733', 'created_date': '2016-06-24'}