Gaucher's disease: deficiency of 'acid'  -glucosidase and reconstitution of enzyme activity in vitro.
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a beta-glucosidase (EC 3.2.1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is stimulated by 0.02% Triton X-100. A mixture of spleen homogenates from a control and from the patient contained beta-glucosidase activity equivalent to 2-3 times the theoretical expected activity. The increase in enzyme activity occurred at pH 4.0-4.3; the magnitude of the increase was proportional to the amount of each homogenate added. Two factors, one called factor P from the patient's spleen, the other called factor C from the control spleen, were responsible for a reconstitution of beta-glucosidase activity in vitro. Factor P is tentatively identified as an acid glycoprotein.
D002648:Child; D002850:Chromatography, Gel; D004586:Electrophoresis; D004789:Enzyme Activation; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology*; D005959:Glucosidases / Q000378:metabolism*; D006023:Glycoproteins / Q000032:analysis / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D066298:In Vitro Techniques; D007527:Isoenzymes / Q000378:metabolism*; D013154:Spleen / Q000032:analysis / Q000201:enzymology* / Q000378:metabolism; D013156:Splenectomy; D013997:Time Factors
D006023:Glycoproteins; D007527:Isoenzymes; D005959:Glucosidases