LONGITUDINAL STUDY OF UREA CYCLE DISORDERS

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。 这项研究的目的是对一大群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障碍的自然病史。我们将随着时间的推移评估生化状态、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，以评估哪种治疗方式在存活率和认知结果方面最有效。我们还将寻求识别可能预测未来代谢失衡的生化变化(生物标记物)，以便在临床症状出现之前纠正这些变化。

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.