This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor 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.
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