Abstract
Lymphocytes, monocytes, neutrophilic granulocytes and platelets were each separated to greater than 95% purity from six normal subjects, three patients with Gaucher's disease, two heterozygotes for Gaucher's disease, and one patient with Fabry's disease. Activities of the following acid hydrolases were determined: "acid" (pH 4.0) beta- glucosidase, pH 5.0 beta-glucosidase, alpha-galactosidase, alpha- arabinosidase, alpha-mannosidase, alpha-glucosidase, beta- glucuronidase, beta-galactosidase, beta-hexosaminidase, and acid phosphatase. Enzymatic activity varied greatly with cell type and the enzyme being measured; the importance of assaying pure preparations especially for heterozygote detection is emphasized. Gaucher's disease patients' cells were found to be deficient in the pH 4.0 acid beta- glucosidase, variable in the pH 5.0 beta-glucosidase, and normal in all other acid hydrolases tested, including acid phosphatase, the activity of which is known to be elevated in plasma. Blood cells of a patient with Fabry's disease were deficient in alpha-galactosidase and normal in all other acid hydrolases tested.
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- Beutler E., Kuhl W. Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes. Lancet. 1970 Mar 21;1(7647):612–613. doi: 10.1016/s0140-6736(70)91646-6. [DOI] [PubMed] [Google Scholar]
- Beutler E., Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med. 1970 Nov;76(5):747–755. [PubMed] [Google Scholar]
- HO M. W., Rigby M. Glucocerebrosidase: stoichiometry of association between effector and catalytic proteins. Biochim Biophys Acta. 1975 Jul 27;397(1):267–273. doi: 10.1016/0005-2744(75)90199-0. [DOI] [PubMed] [Google Scholar]
- Ho M. W., Seck J., Schmidt D., Veath M. L., Johnson W., Brady R. O., O'Brien J. S. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet. 1972 Jan;24(1):37–45. [PMC free article] [PubMed] [Google Scholar]
- Kint J. A. Fabry's disease: alpha-galactosidase deficiency. Science. 1970 Feb 27;167(3922):1268–1269. doi: 10.1126/science.167.3922.1268. [DOI] [PubMed] [Google Scholar]
- Klibansky C., Hoffmann J., Pinkhas J., Algom D., Dintzman M., Ben-Bassat M., De Vries A. Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen. Eur J Clin Invest. 1974 Apr;4(2):101–107. doi: 10.1111/j.1365-2362.1974.tb00379.x. [DOI] [PubMed] [Google Scholar]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- Losman M. J. Beta-glucosidase activity as a diagnostic index of Gaucher's disease. S Afr Med J. 1974 Jun 8;48(27):1150–1152. [PubMed] [Google Scholar]
- Padeh B., Navon R. Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Isr J Med Sci. 1971 Feb;7(2):259–263. [PubMed] [Google Scholar]
- Snyder R. A., Brady R. O. The use of white cells as a source of diagnostic material for lipid storage diseases. Clin Chim Acta. 1969 Aug;25(2):331–338. doi: 10.1016/0009-8981(69)90275-7. [DOI] [PubMed] [Google Scholar]