Apr 1, 1976

Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease

The Journal of Experimental Medicine
E BeutlerG Pangalis

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.

Mentioned in this Paper

Acid Phosphatase
Beta-Glucosidase
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Granulocyte Count
Lymphoid Cells
GBA
White Blood Cell Count Procedure
Gaucher Disease
Glucosylceramidase
Alpha-L-Arabinofuranosidase

About this Paper

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