Chiao Y B, Hoyson G M, Peters S P, Lee R E, Diven W, Murphy J V, Glew R H
Proc Natl Acad Sci U S A. 1978 May;75(5):2448-52. doi: 10.1073/pnas.75.5.2448.
Biochemical investigations were performed on autopsy tissues obtained from an 11-year-old girl who died with the juvenile, subacute neuropathic form of Gaucher disease. In addition to the expected deficiency of glucocerebrosidase activity, extracts of both liver and kidney from this individual displayed a profound (greater than or equal to 90%) deficiency of "soluble" beta-glucosidase, beta-xylosidase, and beta-galactosidase activities. Fibroblasts obtained from this individual also contained markedly reduced levels of beta-xylosidase activity but normal levels of beta-D-fucosidase and beta-galactosidase activity. Because the soluble beta-glucosidase, beta-xylosidase, and a portion of the beta-galactosidase activities from control human liver all cochromatographed on a gel filtration column of Sephadex G-200, it is suggested that these activities all reside in a single enzyme, analogous to the situation described in a number of nonhuman, mammalian tissues. This demonstration of multiple glycosidase deficiencies in addition to the deficiency of glucocerebrosidase in a case of subacute neuropathic Gaucher disease suggests that other biochemical aberrations, in addition to a deficiency of glucocerebrosidase, might contribute to pathology in some cases of Gaucher disease.
对一名患有青少年型亚急性神经性戈谢病死亡的11岁女孩的尸检组织进行了生化研究。除了预期的葡萄糖脑苷脂酶活性缺乏外，该个体肝脏和肾脏提取物中“可溶性”β-葡萄糖苷酶、β-木糖苷酶和β-半乳糖苷酶活性均有严重缺乏（大于或等于90%）。从该个体获得的成纤维细胞中β-木糖苷酶活性水平也显著降低，但β-D-岩藻糖苷酶和β-半乳糖苷酶活性水平正常。由于对照人肝脏中的可溶性β-葡萄糖苷酶、β-木糖苷酶以及部分β-半乳糖苷酶活性在Sephadex G-200凝胶过滤柱上均能共层析，提示这些活性均存在于单一酶中，这与许多非人类哺乳动物组织中描述的情况类似。在一例亚急性神经性戈谢病中，除葡萄糖脑苷脂酶缺乏外还存在多种糖苷酶缺乏，这表明在某些戈谢病病例中，除葡萄糖脑苷脂酶缺乏外，其他生化异常可能也与病理过程有关。
