Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency
复制标题
迟发性鸟氨酸转氨甲酰酶缺乏症导致脑代谢明显异常
作者：
J. Takanashi;A. Kurihara;M. Tomita;M. Kanazawa;S. Yamamoto;F. Morita;H. Ikehira;S. Tanada;Y. Kohno
目的 评估迟发性鸟氨酸转氨甲酰酶缺乏症 (OTCD) 患者脑代谢物的变化。方法 使用点分辨光谱技术（重复和回波时间，5000 和 30 毫秒）对 6 名无关、无症状的日本迟发性 OTCD 患者进行质子 MRS (1HMRS) 分析。获取半卵圆中心的局部光谱并使用 LC 模型计算绝对代谢物浓度。结果与年龄匹配的对照相比，所有患者的 N-乙酰天冬氨酸和肌酸浓度均正常。四名患者的谷氨酰胺 (Gln) 加谷氨酸浓度增加，其进展与临床分期成比例。在 5 名有症状的患者中未检测到肌醇 (mL)。在两名临床重症患者中检测到胆碱 (Cho) 浓度降低。一名患者肝移植后的 1HMRS 显示所有代谢物均正常化。结论 这些发现表明 OTCD 中神经化学事件的进展，即 mI 耗尽和 Gln 积累，然后是 Cho 耗尽，这与肝性脑病中的情况相反，即 Cho 耗尽，然后是 mI 耗尽和 Gln 积累。
Objective To assess alterations in brain metabolites in patients with late-onset ornithine transcarbamylase deficiency (OTCD). Methods Six unrelated, asymptomatic Japanese late-onset OTCD patients were analyzed by proton MRS (1HMRS) using a point-resolved spectroscopy technique (repetition and echo times, 5000 and 30 ms). Localized spectra for the centrum semiovale were acquired and absolute metabolite concentrations were calculated using an LCModel. Results Compared with age-matched controls, N-acetylaspartate and creatine concentrations were normal in all patients. The glutamine (Gln) plus glutamate concentration was increased in four patients, which progressed in proportion to the clinical stage. myo-inositol (mI) could not be detected in five symptomatic patients. A decreased choline (Cho) concentration was detected in two clinically severe patients. 1HMRS after liver transplantation in one patient revealed the normalization of all metabolites. Conclusion These findings suggest progression of neurochemical events in OTCD, i.e., mI depletion and Gln accumulation followed by Cho depletion, which is reverse of that in hepatic encephalopathy, i.e., Cho depletion followed by mI depletion and Gln accumulation.