Abstract
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.
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References
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© 1986 Plenum Press, New York
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Aerts, J.M.F.G. et al. (1986). Forms of Glucocerebrosidase Present in Tissues and Urine. In: Freysz, L., Dreyfus, H., Massarelli, R., Gatt, S. (eds) Enzymes of Lipid Metabolism II. NATO ASI Series, vol 116. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5212-9_89
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DOI: https://doi.org/10.1007/978-1-4684-5212-9_89
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