[Hereditary deficiency of isomaltase and saccharase responsible for a malabsorption syndrone (author's transl)].
Among 135 infants and children with a supposed malabsorption syndrome, a deficiency of isomaltase-saccharase of the duodenal mucosa was detected in 5 cases by measuring the disaccharidases directly in the mucosa homogenate. In one instance a deficiency of lactase was found in addition. In all patients the villi were of normal length, with an increased cell infiltration of the stroma detected in two cases. The loading tests with xylose-sucrose yielded a diminuished rise in the blood glucose level. Three of the patients were dwarfish, but only one showed an increased growth after the reduction of sucrose in the supplied diet. As a result of adaptation difficulties in the change of diet, one patient had to be treated with an additional saccharase substitution.
D000293:Adolescent; D001786:Blood Glucose / Q000032:analysis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003677:Deficiency Diseases / Q000150:complications* / Q000151:congenital; D003968:Diarrhea, Infantile / Q000209:etiology; D004187:Disaccharides / Q000032:analysis; D004386:Duodenum / Q000201:enzymology; D004392:Dwarfism / Q000178:diet therapy; D005260:Female; D005959:Glucosidases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000032:analysis / Q000201:enzymology*; D007787:Lactose Intolerance; D008286:Malabsorption Syndromes / Q000209:etiology*; D008297:Male; D008320:Maltose; D013393:Sucrase / Q000172:deficiency* / Q000627:therapeutic use; D013395:Sucrose; D014198:Trehalase / Q000032:analysis; D014994:Xylose
D001786:Blood Glucose; D004187:Disaccharides; D013395:Sucrose; D008320:Maltose; D014994:Xylose; D005959:Glucosidases; D014198:Trehalase; D013393:Sucrase
Hereditärer Isomaltase-Saccharase-Mangel der Dünndarmschleimhaut als Ursache für ein Malabsorptionssyndrom