Kato E, Yokoi T, Taniguchi N
Clin Chim Acta. 1979 Jul 16;95(2):285-90. doi: 10.1016/0009-8981(79)90370-x.
Several lysosomal acid hydrolases were assayed in peripheral blood leukocytes from a patient with I-cell disease by the method of Hindman, J. and Cotlier, E. ((1972) Clin. Chem. 18, 971--975). The activities of lysosomal hydrolases in polymorphonuclear cells showed no significant differences between the patient, the parents, and normal controls, while lymphocytes from the patient exhibited the reduced activities of alpha- and beta-galactosidases, beta-glucuronidase, and N-acetyl-beta-glucosaminidase. After phytohemagglutinin-stimulated culture, lymphocytes from the patient showed a more definite reduction in the activities of these lysosomal enzymes; the activities of beta-glucuronidase, alpha-mannosidase, and N-acetyl-beta-glucosaminidase were reduced to about 20--30% of the activity in the phytohemagglutinin-stimulated control cultures, and the activities of alpha- and beta-galactosidases to 10% or less. Lymphocytes from the parents showed no significant difference in the activities of these enzymes from the controls, whether stimulated or not.
采用Hindman, J.和Cotlier, E.的方法（(1972) Clin. Chem. 18, 971 - 975）对一名I细胞病患者外周血白细胞中的几种溶酶体酸性水解酶进行了测定。多形核细胞中溶酶体水解酶的活性在患者、其父母和正常对照之间没有显著差异，而患者的淋巴细胞中α-半乳糖苷酶、β-半乳糖苷酶、β-葡萄糖醛酸酶和N-乙酰-β-氨基葡萄糖苷酶的活性降低。在植物血凝素刺激培养后，患者的淋巴细胞中这些溶酶体酶的活性有更明显的降低；β-葡萄糖醛酸酶、α-甘露糖苷酶和N-乙酰-β-氨基葡萄糖苷酶的活性降至植物血凝素刺激的对照培养物中活性的约20% - 30%，α-半乳糖苷酶和β-半乳糖苷酶的活性降至10%或更低。无论是否受到刺激，患者父母的淋巴细胞中这些酶的活性与对照相比均无显著差异。
