Gusina N B, Tsukerman G L
Vopr Med Khim. 1988 May-Jun;34(3):21-5.
One patient with I-cell disease and three patients with pseudo Hurler polydystrophy as well as their relatives were examined. Activity of acid hydrolases was distinctly elevated in blood plasma of all the patients studied, while in leukocyte extracts it was within the normal limits. The ratio of hexosaminidase A was distinctly decreased in blood plasma of the patient with I-cell disease and of her mother. "Low activity" variant of blood plasma alpha-fucosidase was detected in one patient with pseudo Hurler polydystrophy and in his father. The ratio of bound sialic acids in supernatant and in individual leukocyte fractions was about I in all the patients examined as compared with 0.3-0.5 value in healthy persons. The data obtained suggest an excessive storage of soluble sialyl-containing derivatives in leukocytes of the patients with different variants of I-cell disease.
对1例I细胞病患者、3例假胡尔勒多营养不良患者及其亲属进行了检查。在所有研究患者的血浆中，酸性水解酶的活性明显升高，而在白细胞提取物中则在正常范围内。I细胞病患者及其母亲的血浆中，己糖胺酶A的比例明显降低。在1例假胡尔勒多营养不良患者及其父亲中检测到血浆α-岩藻糖苷酶的“低活性”变体。与健康人0.3 - 0.5的值相比，所有受检患者上清液和单个白细胞组分中结合唾液酸的比例约为1。获得的数据表明，在不同变体的I细胞病患者的白细胞中，可溶性含唾液酸衍生物过度储存。
