Fucosidosis and I-cell disease: a fine structural and silver-staining study of abnormal inclusion bodies in small-intestinal cells.
Small-intestinal cells of children with fucosidosis or the I-cell type of lysosomal storage disease were investigated with special attention to the fine structure and silver-staining patterns of abnormal inclusion bodies. The results indicate an accumulation of mucopolysaccharide and or glycoprotein, and lipid materials in the greater part of these inclusion bodies. The significantly enlarged lysosome-like bodies in the absorptive cells of these patients showed the same silver-stain affinity as the Golgi apparatus, apical vesicles and tubules, and the cell coat. This might indicate a crinophagic function of the lysosome-like bodies in the transport or secretion of cell coat material. Additional information is given on the storage of material in the significantly enlarged inclusion bodies in cultured fibroblasts and in the abnormal vacuoles of peripheral blood lymphocytes in I-cell disease.
D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005643:Fucose / Q000378:metabolism*; D006023:Glycoproteins / Q000032:analysis; D006025:Glycosaminoglycans / Q000032:analysis; D006056:Golgi Apparatus / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007223:Infant; D007421:Intestine, Small / Q000648:ultrastructure*; D008055:Lipids / Q000032:analysis; D008214:Lymphocytes / Q000648:ultrastructure; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D009081:Mucolipidoses / Q000473:pathology*; D012834:Silver; D013194:Staining and Labeling; D014617:Vacuoles / Q000648:ultrastructure; D005644:alpha-L-Fucosidase / Q000172:deficiency
D006023:Glycoproteins; D006025:Glycosaminoglycans; D008055:Lipids; D005643:Fucose; D012834:Silver; D005644:alpha-L-Fucosidase