title: Some inherited lysosomal enzyme defects with special reference to the liver and prospects for their control.
abstract: Lysosomes are subcellular organelles which contain hydrolytic enzymes. These enzymes catalyse the degradation of macromolecules which are: I. taken into the cell by endocytosis; II. derived from the cells own structural components by autophagy; III. unused secretory products in the case of exocrine or endocrine cells. Each of the lysosomal storage diseases is due to the mutation of a gene which directs the synthesis of a specific lysosomal enzyme. This alters the catalytic activity of the enzyme and specific, incompletely degraded, macromolecules accumulate. The lysosomal enzymes pass from cell to cell by a combination of exocytosis and endocytosis, and this makes enzyme replacement therapy potentially feasible. The on-going trial of fibroblast transplantation as a means of enzyme replacement for the treatment of Pfaundler-Hurler disease in the author's laboratory, is briefly described.
mesh_terms: D004705:Endocytosis; D006801:Humans; D008099:Liver / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D046911:Macromolecular Substances; D009081:Mucolipidoses / Q000378:metabolism; D009083:Mucopolysaccharidoses / Q000378:metabolism; D010587:Phagocytosis; D013106:Sphingolipidoses / Q000378:metabolism
chemical_list: D046911:Macromolecular Substances