Potier M, Melançon S B, Dallaire L, Chicoine R, Mameli L, Bélisle M
Am J Med Genet. 1979;4(2):191-200. doi: 10.1002/ajmg.1320040211.
The significance of neuraminidase deficiency reported to be the primary defect in mucolipidosis II has been evaluated by determination of this enzyme activity in cultured fibroblasts, culture medium, and leucocytes from homozygote and heterozygous carriers of the disease. A new and sensitive fluorometric assay of neuraminidase was used with sodium (4-methylumbeliferyl-alpha-D-N-acetylneuraminate) as substrate. We report: 1) nearly total deficiency of neuraminidase in mucolipidosis fibroblasts, 2) partial deficiency of this enzyme in leucocytes of one patient, 3) this decreased activity ceases to exist following Triton X-100 treatment, and 4) intermediary mean neuraminidase activity in fibroblasts and leucocytes from obligate heterozygotes. Although these results would be consistent with the suggestion that neuraminidase deficiency is the primary defect in this disease, evidence from the work of other authors suggests that the enzyme deficiency results from a secondary effect of the mucolipidosis II mutation.
据报道，神经氨酸酶缺乏是黏脂贮积症II的主要缺陷，通过测定该病纯合子和杂合子携带者的培养成纤维细胞、培养基和白细胞中的这种酶活性，对其意义进行了评估。使用一种新的、灵敏的神经氨酸酶荧光测定法，以（4-甲基伞形酮基-α-D-N-乙酰神经氨酸）钠作为底物。我们报告：1）黏脂贮积症成纤维细胞中神经氨酸酶几乎完全缺乏；2）一名患者的白细胞中该酶部分缺乏；3）经Triton X-100处理后，这种降低的活性不再存在；4） obligate杂合子的成纤维细胞和白细胞中神经氨酸酶活性处于中间水平。尽管这些结果与神经氨酸酶缺乏是该病主要缺陷的观点一致，但其他作者的研究证据表明，该酶缺乏是黏脂贮积症II突变的继发效应。
