LONGITUDINAL STUDY OF UREA CYCLE DISORDERS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 本研究的目的是对大量患有各种尿素循环障碍的患者进行长期随访，以确定这种罕见代谢紊乱的自然史。我们将评估随着时间推移的生化状态，生长和认知功能，并比较两种最常用的治疗形式，替代途径治疗和肝移植，以评估哪一种在生存和认知结局方面最有效。我们还将寻求确定可能预测未来代谢失衡的生化变化（生物标志物），以便在临床症状出现之前进行纠正。

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. The purpose of this study is to perform a long-term follow-up of a large group of patients with the various urea cycle disorders to determine the natural history of this rare metabolic disorder. We will assess biochemical status, growth, and cognitive function over time and compare the two most commonly used forms of treatment, alternate pathway therapy and liver transplantation to assess which is the most effective with respect to survival and cognitive outcome. We will also seek to identify biochemical changes (biomarkers) that may predict future metabolic imbalances so that they can be corrected before clinical symptoms develop.