Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complex carbohydrate intolerance occurred in three of 105 patients with protracted diarrhea of infancy. Nosocomial gastroenteritis complicated a primary disorder of carbohydrate absorption (primary glucose galactose malabsorption, two; primary sucrase isomaltase deficiency, one) in all patients. Their course was characterized by protracted diarrhea, variable degrees of villus atrophy on intestinal biopsy tissue, and negative caloric balance requiring intravenous alimentation for periods varying from 6 to 16 weeks. Dietary management required rigid exclusion of all offending carbohydrates from the diet. Delay in the diagnosis of primary carbohydrate intolerance varied from 2 weeks to 6 months. Complex carbohydrate intolerance may be more common than has been reported, and should be considered in all infants with protracted diarrhea of infancy when there is persistent carbohydrate intolerance.
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PMID:Complex carbohydrate intolerance: diagnostic pitfalls and approach to management. 336 80

Sucrase-isomaltase deficiency is an inherited disaccharidase deficiency that leads to malabsorption of sucrose, with resulting diarrhea and abdominal distention and cramps. We investigated the sucrose-splitting effect of viable yeast cells in eight children with congenital sucrase-isomaltase deficiency, by means of the sucrose hydrogen breath test. This test is based on the fact that hydrogen is released from the malabsorbed sucrose by the colonic microflora. We found that 0.3 g of lyophilized Saccharomyces cerevisiae, given after loading with 2 g of sucrose per kilogram of body weight, reduced hydrogen excretion in all patients, on average by 70 percent, in parallel with a complete loss or evident reduction of clinical symptoms. In vitro, lyophilized and fresh S. cerevisiae (fresh baker's yeast) had appreciable sucrase activity, a low isomaltase and maltase activity, and virtually no lactase activity. The sucrase activity was more inhibited by undiluted than by diluted gastric juice. We conclude that patients with congenital sucrase-isomaltase deficiency who intentionally or unintentionally consume sucrose can ameliorate the malabsorption by subsequently ingesting a small amount of viable yeast cells, preferably on a full stomach.
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PMID:Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. 355 46

Sucrose breath hydrogen tests were performed on 7 children with proved sucrase isomaltase deficiency. All children had raised breath hydrogen excretion. The amount of hydrogen produced and symptoms experienced increased with increasing sucrose loads. The sucrose breath hydrogen test appears to be a reliable indicator of sucrose malabsorption in sucrase isomaltase deficiency.
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PMID:Breath hydrogen test and sucrase isomaltase deficiency. 661 73