Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
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.
D000135:Acid Phosphatase / Q000378:metabolism; D001792:Blood Platelets / Q000201:enzymology*; D000795:Fabry Disease / Q000201:enzymology*; D005696:Galactosidases / Q000378:metabolism; D005776:Gaucher Disease / Q000201:enzymology*; D005959:Glucosidases / Q000378:metabolism; D005966:Glucuronidase / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism; D006098:Granulocytes / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007962:Leukocytes / Q000201:enzymology*; D008214:Lymphocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008361:Mannosidases / Q000378:metabolism; D009000:Monocytes / Q000201:enzymology
D000135:Acid Phosphatase; D005696:Galactosidases; D005959:Glucosidases; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D008361:Mannosidases; D005966:Glucuronidase