迟发性鸟氨酸转氨甲酰酶缺乏症：成人反复出现异常行为的罕见原因。
Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults.
作者信息
Hidaka Masaoki, Higashi Eiji, Uwatoko Takeshi, Uwatoko Kiku, Urashima Mayumi, Takashima Hiroshi, Watanabe Yoriko, Kitazono Takanari, Sugimori Hiroshi
机构信息
Department of Cerebrovascular Medicine Stroke Center Saga Prefecture Medical Centre Koseikan Saga Japan.
Department of Neurology Stroke Center Saga Prefecture Medical Centre Koseikan Saga Japan.
出版信息
Acute Med Surg. 2020 Sep 8;7(1):e565. doi: 10.1002/ams2.565. eCollection 2020 Jan-Dec.
BACKGROUND
Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal-onset disease, a late-onset form that could become symptomatic from infancy to adulthood is also known.
CASE PRESENTATION
A 34-year-old man presented with sudden onset of abnormal behavior, lethargy, and hyperammonemia (108 µmol/L). He had recently increased daily protein intake, which suggested urea cycle disorder. After initiation of protein-restricted diet and treatment with arginine and sodium phenylbutyrate, his symptoms resolved, along with a decrease in the ammonia level. An R40H(c.119G > A) mutation in the gene was identified.
CONCLUSION
Awareness of adult onset ornithine transcarbamylase deficiency in a patient with acute psychiatric symptoms due to hyperammonemia is important.
背景
鸟氨酸转氨甲酰酶是尿素循环中的一种酶，可由氨生成尿素。虽然鸟氨酸转氨甲酰酶缺乏症主要表现为严重的新生儿期发病疾病，但也存在从婴儿期到成年期可能出现症状的迟发性形式。
病例报告
一名34岁男性突然出现异常行为、嗜睡和高氨血症（108µmol/L）。他近期每日蛋白质摄入量增加，提示尿素循环障碍。在开始限制蛋白质饮食并使用精氨酸和苯丁酸钠治疗后，他的症状得到缓解，同时氨水平下降。基因检测发现R40H（c.119G>A）突变。
结论
对于因高氨血症导致急性精神症状的患者，认识到成人型鸟氨酸转氨甲酰酶缺乏症很重要。
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