Tay-sachs
Tay-Sachs，家族黑蒙性癡呆症。溶酶体缺少氨基己糖酯酶A，导致神经节甘脂GM2积累，影响细胞功能，造成精神性痴呆。
维基百科中的醫療相关内容仅供参考，詳見醫學聲明。如需醫療服務或可靠意見，请咨询专业人士。| Tay–Sachs | |
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| Cherry-red spot as seen in Tay–Sachs disease: the fovea's center appears bright red because it is surrounded by a milky halo. | |
| 类型 | 胞溶體貯積症, GM2 gangliosidosis[*], eye degenerative disease[*] |
| 分类和外部资源 | |
| 醫學專科 | 醫學遺傳學 |
| ICD-10 | E75.0 |
| ICD-9-CM | 330.1 |
| OMIM | 272800 272750 |
| DiseasesDB | 12916 |
| MedlinePlus | 001417 |
| eMedicine | ped/3016 |
| Patient UK | Tay-sachs |
| MeSH | D013661 |
| Orphanet | 845 |
参考资料
- PLoS Genet. 2012 Sep;8(9):e1002943. doi: 10.1371/journal.pgen.1002943. Epub 2012
- Sep 20.Characterization of inducible models of tay-sachs and related disease.
- Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.
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