DEMONSTRATION OF A DEFICIENCY OF BETA-XYLOSIDASE ACTIVITY IN VARIOUS FORMS OF GAUCHERS-DISEASE

Gaucher''s disease is a lipid storage disease caused by a deficiency in the activity of a lysosomal enzyme, glucocerebrosidase. A patient with subacute neuropathic (type 3) Gaucher''s disease whose tissues were deficient in .beta.-xylosidase, and glucocerebrosidase activity was recently described. To determine if a deficiency of .beta.-xylosidase activity is a general feature of Gaucher''s disease, tissues from individuals with all 3 clinical forms of Gaucher''s disease were analyzed for .beta.-xylosidase activity. Spleen, fibroblasts and leukocytes were deficient in .beta.-xylosidase activity. Preliminary experiments suggest that patients with the most severe forms of disease may display the lowest levels of residual .beta.-xylosidase activity. Patients with the lowest levels of residual glucocerebrosidase activity apparently do not always display the most severe clinical manifestations of Gaucher''s disease. Certain biochemical abnormalities in addition to the deficiency of glucocerebrosidase activity, such as a deficiency of .beta.-xylosidase activity, might produce more severe symptoms in some individuals with this disease. Possible chemical and biochemical relationships between glucocerebrosidase and .beta.-xylosidase should be explored.