ASSESSING NEURAL MECHANISMS OF INJURY IN INBORN ERRORS OF UREA METABOLISM USI

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 该项目将研究女性鸟氨酸转氨酶缺乏症(OTCD)携带者或晚发OTCD男性患者的认知和运动功能障碍。该项目旨在提高我们对尿素循环障碍中代谢、认知、感觉和运动异常的潜在神经机制的理解。实验方法将结合感觉、认知和运动测试以及结构、功能和分子磁共振成像，以研究X-连锁鸟氨酸转氨酶缺乏症(OTCD)的症状和无症状杂合型女性携带者，以及晚发性半合子男性。 参与者将被要求接受几项测试，其中包括：MRI(磁共振成像)，一种非侵入性技术，感觉、认知和运动测试，以及实验室测试(血/尿)

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This project will study cognitive and motor dysfunction in patients who are female carriers of ornithine transcarbamylase deficiency (OTCD) or are males with late onset presentation of OTCD. This project seeks to improve our understanding of the underlying neural mechanisms that contribute to metabolic, cognitive, sensory and motor abnormalities in urea cycle disorders. Experimental approaches will combine sensory, cognitive and motor testing with structural, functional and molecular magnetic resonance imaging to study symptomatic and asymptomatic heterozygous female carriers of X-linked Ornithine transcarbamylase deficiency (OTCD), and late onset hemizygous males. Participants will be asked to submit to several tests that include: MRI (magnetic resonance imaging) a non-invasive technique, sensory, cognitive and motor testing and Laboratory testing (blood/urine)