Tsvetkova I V, Rozenfel'd E L, Novikova I M, Barashnev Iu I, Prigozhina I G
Vopr Med Khim. 1980 Jul-Aug;26(4):552-5.
On examination of children with primary diagnosis of mucopolysaccharidosis distinct deficiency of acid alpha-D-mannosidase was found in leukocytes of the children and decrease in the enzymatic activity down to the level of heterozygote carriers was observed in their parents. The activity of neutral alpha-D-mannosidase was within the range of normal values in the children and parents. The examination carried out enabled to establish the diagnosis the hereditary lysosomal disease of accumulation--mannosidosis--in the children.
在对初步诊断为黏多糖贮积症的儿童进行检查时，发现这些儿童的白细胞中酸性α-D-甘露糖苷酶明显缺乏，并且在其父母中观察到酶活性降低至杂合子携带者的水平。儿童和父母的中性α-D-甘露糖苷酶活性在正常范围内。所进行的检查能够确诊这些儿童患有遗传性溶酶体贮积病——甘露糖苷贮积症。
