Glucocerebroxidase Action Mechanism?

[josekolich]

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

[qazibasit]

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.