遗传性代谢紊乱与中风 第2部分：同型胱氨酸尿症、有机酸尿症和尿素循环障碍
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.
作者信息
Testai Fernando D, Gorelick Philip B
机构信息
Department of Neurology and Rehabilitation, Section of Cerebrovascular Disease and Neurological Critical Care, University of Illinois College of Medicine at Chicago, 912 S Wood Street, Chicago, IL 60612, USA.
出版信息
Arch Neurol. 2010 Feb;67(2):148-53. doi: 10.1001/archneurol.2009.333.
Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, and urea cycle disorders.
几种遗传性代谢紊乱与中风有关，尤其是在新生儿、儿童和年轻人中。在第1部分，我们讨论了法布里病以及线粒体肌病、脑病、乳酸性酸中毒和类中风发作的遗传学、中风病理生理学、临床表现、诊断和治疗。在第2部分，我们概述了同型胱氨酸尿症、有机酸尿症和尿素循环障碍。
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