Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
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DOI：
10.1002/ana.79
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发表时间：
2001-03-01
影响因子：
11.2
通讯作者：
DeGrauw, TJ
中科院分区：
文献类型：
--
作者：
Cecil, KM;Salomons, GS;DeGrauw, TJ
最近的报道强调了体内磁共振波谱（MRS）技术的实用性，以识别影响中枢神经系统（CNS）的肌酸缺乏综合征。报告的病例表明，口服肌酸恢复中枢神经系统肌酸水平后，神经系统症状部分可逆。我们描述了一个病人与质子磁共振检测脑肌酸缺乏综合征，不同于已发表的报告。代谢筛查显示血清和尿液中肌酸升高，胍基乙酸水平正常。与其他报告的肌酸缺乏综合征病例不同，口服肌酸一水合物治疗显示质子MRS未观察到脑肌酸增加，临床症状未改善。在这项研究中，我们报告了一种新的脑肌酸缺乏综合征最有可能代表肌酸转运蛋白缺陷。
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine. We describe a patient with a brain creatine deficiency syndrome detected by proton MRS that differs from published reports. Metabolic screening revealed elevated creatine in the serum and urine, with normal levels of guanidino acetic acid. Unlike the case with other reported creatine deficiency syndromes, treatment with oral creatine monohydrate demonstrated no observable increase in brain creatine with proton MRS and no improvement in clinical symptoms. In this study, we report a novel brain creatine deficiency syndrome most likely representing a creatine transporter defect.