Okada S, O'Brien J S
Science. 1968 May 31;160(3831):1002-4. doi: 10.1126/science.160.3831.1002.
A profound deficiency (10- to 30-fold) of beta-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-beta-D-galactopyranoside and ganglioside GM(1) labeled with C(14) in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM(1) and is the fundamental enzyme defect in generalized gangliosidosis.
在两名全身性神经节苷脂沉积症患者的组织（肝脏、脾脏、肾脏和大脑）中发现β-半乳糖苷酶活性严重缺乏（10至30倍）；这种缺乏表现为不能切割对硝基苯基-β-D-吡喃半乳糖苷和在末端半乳糖上标记有C(14)的神经节苷脂GM(1)。我们认为这种酶缺陷是神经节苷脂GM(1)积累的原因，并且是全身性神经节苷脂沉积症的根本酶缺陷。
