别名 Choreoathetosis Self Mutilation Hyperuricemia Syndrome、Choreoathetosis Self Mutilation Syndrome、Choreoathetosis Self-Mutilation Hyperuricemia Syndrome + [159] |
简介 An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) |
作用机制 D1 receptor拮抗剂 |
在研适应症 |
最高研发阶段临床3期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
靶点 |
作用机制 URAT1抑制剂 |
在研机构 ![]() |
原研机构 ![]() |
非在研适应症 |
最高研发阶段临床2期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
靶点 |
作用机制 URAT1抑制剂 |
在研机构 |
原研机构 |
最高研发阶段临床2期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
开始日期2023-12-19 |
开始日期2023-08-27 |
申办/合作机构 |
开始日期2022-09-28 |
申办/合作机构 |