josekolich Posted May 28, 2004 Share Posted May 28, 2004 Hello My question is about the Gaucher disease. Can anybody tell me which the enzyme action mechanism is (I mean glucocerebroxidase)?and please also the specific identity of substrates and products (with the corresponding names and formules). Thank you Link to comment Share on other sites More sharing options...
qazibasit Posted July 3, 2004 Share Posted July 3, 2004 it is an inherited disease and that it is caused due to the deficiency of an enzyme B-glucocerebrosidase a lysosomal enzyme .Normally this enzyme hydrolyze the glucocerebroside into ceramide and glucose. Int he absence of this enzyme glucocerebrosidase cant be degraded in the body as a result it starts accumulating in the body as 'kerasin' in cells i.e liver, spleen , bone marrow and also brain. characterstically there is elevation in serum acid phosphate level. both adults and infants are effected Infants: loss of weight, fails to grow mentalretardation Adults: splenomegaly bone pain anaemialeucopenia and thrombocytopenia. Link to comment Share on other sites More sharing options...
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