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Results for “DEFICIENCY DISEASES”

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PubMed1971

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.

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