NTBC THERAPY OF TYROSINEMIA TYPE I

I 型酪氨酸血症的 NTBC 治疗

• 批准号: 5217601
• 负责人: JESS G THOENE
• 金额: --
• 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/5217601
• 关键词: alpha fetoprotein; aminoacid metabolism; clinical research; drug screening /evaluation; human subject; human therapy evaluation; metabolism disorder chemotherapy; thiocyanates; tyrosinemias

Tyrosinemia type I is a rare inborn error of metabolism resulting in death by liver failure and/or hepatocellular carcinoma. NTBC therapy is being investigated for treatment of tyrosinemia type I. Currently one patient at the University of Michigan is being treated. Our results in this patient show a dramatic diminution in the excretion of succinylacetone and in the plasma alpha-fetoprotein and tyrosine.

I型酪氨酸血症是一种罕见的新陈代谢的先天错误，导致 肝衰竭和/或肝细胞癌死亡。 NTBC治疗是 正在研究以治疗I型酪氨酸血症。目前一个 密歇根大学的病人正在接受治疗。 我们的结果 该患者在排泄中显示出急剧减少 琥珀酸酯和等离子体α-抗蛋白质和酪氨酸中的琥珀酰丙酮。