NTBC THERAPY OF TYROSINEMIA TYPE I

I 型酪氨酸血症的 NTBC 治疗

• 批准号: 6297102
• 负责人: JESS G THOENE
• 金额: $ 0.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6297102
• 关键词: alpha fetoprotein; aminoacid metabolism; clinical research; drug screening /evaluation; enzyme inhibitors; hepatocellular carcinoma; human subject; human therapy evaluation; metabolism disorder chemotherapy; oxygenases; thiocyanates; tyrosinemias

Tyrosinemia Type I is a lethal inherited inborn error of metabolism which produces cirrhosis of the liver and hepatocellular carcinoma. Until recently, the only effective therapy was liver transplant. The drug NTBC has been developed as an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. The drug is well tolerated and produces dramatic biochemical improvement. Long-term studies of the drug to determine if it avoids cirrhosis and hepatocellular carcinoma are in process and the drug has been adopted by a pharmaceutical company. One patient is being studied at the University of Michigan.

I型酪氨酸血症是一种致命的遗传性代谢缺陷，可导致肝硬变和肝细胞癌。直到最近，唯一有效的治疗方法是肝移植。药物NTBC已被开发为4-羟基苯丙酮酸双加氧酶的抑制剂。该药物耐受性良好，并能产生显著的生化改善。该药物的长期研究正在进行中，以确定它是否可以避免肝硬化和肝细胞癌，该药物已被一家制药公司采用。一名患者正在密歇根大学接受研究。