Thomas G H, Scocca J, Miller C S, Reynolds L
Kennedy Institute, Baltimore, Maryland.
Clin Genet. 1989 Oct;36(4):242-9. doi: 10.1111/j.1399-0004.1989.tb03197.x.
The results of the investigations reported here indicate that patients affected with the infantile sialic acid storage disorder (ISSD) and the original French sialuria patient suffer from distinct and fundamentally different disorders. While phase microscopy and immunochemical studies demonstrated abnormal storage within intracellular inclusions in ISSD cells, no morphological evidence of storage within any subcellular organelles was found in the sialuria cells. Moreover, comparative subcellular fractionation studies on gradients of colloidal silica showed the excess sialic acid in ISSD cells to be located within the light (buoyant) lysosomal fraction, while the excessive, free sialic acid in the sialuria cells was found in the cytoplasmic fraction with no increased storage within the lysosomal fractions. It is concluded that the sialic acid abnormalities in ISSD and the French type of sialuria are the result of very different biochemical and genetically unrelated abnormalities.
本文所报道的研究结果表明，患有婴儿型唾液酸贮积症（ISSD）的患者与最初的法国唾液酸尿症患者患有截然不同且本质上完全不同的疾病。相差显微镜检查和免疫化学研究表明，ISSD细胞的细胞内包涵体存在异常贮积，而唾液酸尿症细胞中未发现任何亚细胞器内有贮积的形态学证据。此外，关于胶体二氧化硅梯度的比较性亚细胞分级分离研究表明，ISSD细胞中过量的唾液酸位于轻（浮力）溶酶体分级部分，而唾液酸尿症细胞中过量的游离唾液酸存在于细胞质分级部分，溶酶体分级部分内没有增加的贮积。得出的结论是，ISSD和法国型唾液酸尿症中的唾液酸异常是由非常不同的生化和遗传上不相关的异常导致的。
