Forms of Glucocerebrosidase Present in Tissues and Urine
Gaucher disease is a lysosomal storage disease that is characterized by accumulation of the glycosphingolipid glucocerebroside in lysosomes of cells of the reticuloendothelial system, particularly macrophages1. The metabolic basis of Gaucher disease is a deficiency of glucocerebrosidase, which catalyses the hydrolysis of glucocerebroside to glucose and ceramide2,3. Spleen is the organ that is primarily affected by storage of glucocerebroside. The β-glucosidase activities in human urine and tissues, particularly spleen, from control subjects and patients with different clinical phenotypes of Gaucher disease have been examined using a combination of biochemical and immunological methods. The results of the study are summarised in this paper.
KeywordsSodium Dodecyl Sulphate Gauche Disease High Molecular Mass Lysosomal Storage Disease Glucosidase Activity
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