Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency.
1. Jejunal biopsy specimens from three children with congenital sucrase-isomaltase deficiency were assayed for disaccharidase activity and were subjected to analytical subcellular fractionation with enzymic microanalysis. 2. By use of the highly sensitive fluorigenic modification of the disaccharidase assay, brush-border sucrase and isomaltase activities were depressed but nevertheless detectable in each child. 3. Apart from the expected decrease in brush-border alpha-glucosidase activity, the other enterocyte marker-enzyme activities were normal. 4. There were no abnormalities in the enterocytes of any child on analytical subcellular fractionation or on electron microsocopy.
D000118:Acetylglucosaminidase / Q000378:metabolism; D000469:Alkaline Phosphatase / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000151:congenital*; D002374:Catalase / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency; D004721:Endoplasmic Reticulum / Q000201:enzymology; D005260:Female; D006801:Humans; D007413:Intestinal Mucosa / Q000201:enzymology*; D007583:Jejunum / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008830:Microbodies / Q000201:enzymology; D008871:Microvilli / Q000201:enzymology; D008928:Mitochondria / Q000201:enzymology; D009097:Multienzyme Complexes / Q000172:deficiency*; D013347:Subcellular Fractions / Q000201:enzymology; D013394:Sucrase-Isomaltase Complex / Q000172:deficiency*; D000520:alpha-Glucosidases / Q000172:deficiency
D009097:Multienzyme Complexes; D002374:Catalase; D000469:Alkaline Phosphatase; D004186:Disaccharidases; D013394:Sucrase-Isomaltase Complex; D000520:alpha-Glucosidases; D000118:Acetylglucosaminidase