Nakajima Hitoshi, Sasaki Yosuke, Maeda Tadashi, Takeda Masako, Hara Noriko, Nakanishi Kazushige, Urita Yoshihisa, Hattori Risa, Miura Ken, Taniguchi Tomoko
Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
Department of Gastroenterology, Faculty of Medicine, Toho University, Tokyo, Japan.
Case Rep Gastroenterol. 2014 Nov 5;8(3):337-45. doi: 10.1159/000369131. eCollection 2014 Sep-Dec.
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.
鸟氨酸转氨甲酰酶缺乏症（OTCD）是尿素循环酶缺乏症中最常见的类型。该综合征是由于线粒体酶鸟氨酸转氨甲酰酶缺乏所致，该酶催化鸟氨酸和氨甲酰磷酸转化为瓜氨酸。我们的病例是一名28岁女性，在首次怀孕期间出现神经认知缺陷后被诊断为OTCD。尽管怀疑高氨血症是患者精神变化的原因，但没有慢性肝病的证据。血浆氨基酸和尿有机酸分析显示为OTCD。在使用精氨酸、苯甲酸钠和血液透析进行综合治疗后，患者的血浆氨水平稳定，精神状态恢复正常。最后她康复且未留下任何损伤。
