Tsuji S, Yamada T, Tsutsumi A, Miyatake T
Ann Neurol. 1982 May;11(5):541-3. doi: 10.1002/ana.410110517.
Neuraminidase deficiency has been demonstrated in cultured skin fibroblasts of patients who have adult type sialidosis with partial beta-galactosidase deficiency. A substantial amount of residual enzyme activity has been observed in leukocytes, however. To explain this discrepancy, the nature and distribution of the enzyme were studied. Neuraminidase activity was higher in lymphocytes than in granulocytes of normal controls. In patients' lymphocytes, neuraminidase activity was profoundly decreased and total sialic acid contents were increased 2.3-fold. Two neuraminidases, one sonication-labile and the other sonication-stable, were found in lymphocytes; the former was predominant in cultured skin fibroblasts. The defective enzyme in this disorder was found to be the sonication-labile neuraminidase in both cultured skin fibroblasts and lymphocytes.
在患有成人型唾液酸沉积症且部分β-半乳糖苷酶缺乏的患者培养皮肤成纤维细胞中已证实存在神经氨酸酶缺乏。然而，在白细胞中观察到大量残余酶活性。为了解释这种差异，对该酶的性质和分布进行了研究。正常对照的淋巴细胞中神经氨酸酶活性高于粒细胞。在患者的淋巴细胞中，神经氨酸酶活性显著降低，总唾液酸含量增加了2.3倍。在淋巴细胞中发现了两种神经氨酸酶，一种对超声处理不稳定，另一种对超声处理稳定；前者在培养的皮肤成纤维细胞中占主导地位。发现该疾病中的缺陷酶在培养的皮肤成纤维细胞和淋巴细胞中均为对超声处理不稳定的神经氨酸酶。
