Suzuki Y, Sakuraba H, Potier M, Akagi M, Sakai M, Beppu H
Hum Genet. 1981;58(4):387-9. doi: 10.1007/BF00282820.
4-methylumbelliferyl neuraminidase activity was studied in fibroblasts, leukocytes, and frozen tissues from adult patients with beta-galactosidase-neuraminidase deficiency and specific clinical manifestations. This enzyme was almost completely deficient in fibroblasts, but the residual activity was relatively high (20% of the control mean) in the leukocytes from the patients. The frozen liver from one patient showed the enzyme activity as high as controls. This enzyme consisted of two components, freeze-labile and freeze-stable, and it was demonstrated that only the labile enzyme was deficient in fibroblasts and leukocytes. The apparently normal activity of neuraminidase in frozen autopsy tissues of a patient may be explained by the loss of the labile component in control tissues after a long-term freezing. The neuraminidase activity was variable in parents and no definite conclusion was drawn on the hereditary nature of the disease.
对患有β-半乳糖苷酶-神经氨酸酶缺乏症且有特定临床表现的成年患者的成纤维细胞、白细胞和冷冻组织中的4-甲基伞形酮基神经氨酸酶活性进行了研究。这种酶在成纤维细胞中几乎完全缺乏，但患者白细胞中的残余活性相对较高（为对照平均值的20%）。一名患者的冷冻肝脏显示该酶活性与对照相同。这种酶由两种成分组成，即冻融不稳定成分和冻融稳定成分，结果表明只有不稳定成分在成纤维细胞和白细胞中缺乏。患者冷冻尸检组织中神经氨酸酶活性看似正常，这可能是由于对照组织在长期冷冻后不稳定成分丧失所致。患者父母的神经氨酸酶活性存在差异，关于该疾病的遗传性质尚未得出明确结论。
