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。 尿素循环障碍(UCD)是一组先天性代谢障碍，通常表现为新生儿高氨血症，具有较高的死亡率和发病率。目前对这些疾病的了解仅限于病例报告和孤立中心的小型研究相结合。这项多中心研究旨在进一步了解以下几个领域：1)发病率和流行率，2)发病率和死亡率，3)肝移植与药物和饮食治疗的比较结果，4)随着时间的推移疾病的严重程度，以及5)环境对高氨血症事件的影响。

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. Urea cycle disorders (UCD) represent a group of inborn errors of metabolism that usually present catastrophically with neonatal hyperammonemia and have a high mortality and morbidity. Current knowledge about the disorders is limited to a combination of case reports and small studies in isolated centers. This multicenter study intends to further knowledge in several areas: 1) incidence and prevalence, 2) morbidity and mortality, 3) outcome of liver transplantation compared to treatment with drugs and diet, 4) disease severity over time and 5) environmental influences on hyperammonemic episodes.