资料文本内容遗传120309_the treatment of genetic diseases.pptVIP

* * * * * * * * * * * * * * * * * * To be incorporated into the cell through endocytosis, the active enzyme must be glycosylated to be recognised by the M6P receptor * Presence of Gaucher cells in Gaucher disease is the result of accumulation of glycosphingolipids in the cell. Accumulation and storage occurs in multiple organs giving the symptoms. In Gaucher, 4 main manifestations are discribed : -As Gaucher cells accumulate in bone marrow, patients affected suffer from anaemia, thrombopenia, bleeding tendancy -The spleen and the liver are enlarge. So that you can observe hepatosplenomegaly -B