【PPMTPASS】評論

Tay–Sachs disease is caused by insufficient activity of the enzyme hexosaminidase A. Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks downglycolipids. When hexosaminidase A is no longer functioning properly, the lipids accumulate in the brain and interfere with normal biological processes. Hexosaminidase A specifically breaks down fatty acid derivatives called gangliosides; these are made and biodegraded rapidly in early life as the brain develops. Patients with and carriers of Tay–Sachs can be identified by a simple blood test that measures hexos...

【cleo】評論

又稱家族性黑矇癡呆症，罹患此症的嬰兒因缺乏一種 己醣胺酵素A (Hexosaminidase A)，而此酵素的重要功能在於與神經節甘脂(Gangliosides) 代謝有關，特別是GM2；這些GM2 物質會聚集並逐漸毀壞腦部與神經細胞，直到中樞神經系統功能完全停止。 嬰兒通常症狀表現於3~6 個月大時；大約死於5歲。參考資料