ALTERNATE PATHWAY THERAPY FOR INBORN ERRORS OF UREA SYNTHESIS

尿素合成先天性缺陷的替代途径治疗

• 批准号: 3885910
• 负责人: MARK L BATSHAW
• 金额: --
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3885910
• 关键词: aminoacid biosynthesis; carnitine; human subject; human therapy evaluation; inborn metabolism disorder diagnosis; inborn urea cycle disorder; metabolism disorder chemotherapy; pediatrics; stable isotope diagnosis

This study investigates experimental approaches to the treatment of children with inborn errors of urea synthesis using alternate pathways of waste nitrogen excretion. We are also studying the effects of residual urea synthetic activity on metabolic control utilizing heavy isotope studies and the potential value of supplemental carnitine.

这项研究调查了治疗的实验方法 使用替代途径的尿素合成错误的儿童 废物氮排泄。 我们还正在研究残留的影响 使用重量同位素的代谢控制上的尿素合成活性 研究和补充肉碱的潜在​​价值。