[Congenital saccharase-isomaltase deficiency: a six-year survey (author's transl)].
Saccharase-isomaltase deficiency was discovered in five children. The diagnosis was made on the basis of an abnormal oral saccharose loading response and demonstrating decreased activity of intestinal saccharase and isomaltase in the presence of normal small-intestinal mucosa. Three children failed to thrive, and all had recurrent diarrhoea. The diagnosis was made in children aged six to twenty-two months. Treatment consisted of saccharose-free diet or feeding with an enzyme preparation, Bi-Myconase. Saccharose-containing foods were increasingly tolerated beyond the second year of life so that children aged 2 1/2 to 3 1/4 years no longer required special treatment.
D000367:Age Factors; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D003967:Diarrhea / Q000209:etiology; D004186:Disaccharidases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000201:enzymology; D007583:Jejunum / Q000473:pathology; D013393:Sucrase / Q000172:deficiency*
D004186:Disaccharidases; D013393:Sucrase
Kongenitaler Saccharase-Isomaltase-Mangel. Beobachtungen über einen Zeitraum von 6 Jahren