26 下列何種的缺失會造成 Tay-Sachs disease?
(A) Glucocerebrosidase
(B) Hexosaminidase A
(C) Sphingomyelinase
(D) Galactosidase
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統計: A(126), B(371), C(141), D(71), E(0) #704861
統計: A(126), B(371), C(141), D(71), E(0) #704861
詳解 (共 5 筆)
#1106126
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 hexosaminidase A activity.參考資料
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