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Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions).
Best Pract Res Clin Gastroenterol
March 2022
Department of Pediatric Nutrition, Gastroenterology and Hepatology, Hôpital des enfants de Toulouse, 330, avenue de Grande Bretagne, TSA 70034, 31059 Toulouse cedex 9, France; CHU de Toulouse, France.
Congenital diarrhea may result from 2 main different mechanisms: 1) osmotic diarrhea is caused by the non-digestion-absorption of nutrients leading to the non-absorbed nutrients going into the lumen, increasing the osmotic force and driving fluids; 2) secretory diarrhea induced by the inhibition of intestinal absorption of electrolytes, increasing electrolyte and water flux towards the intestinal lumen. The malabsorption of macronutrients (carbohydrates, proteins and lipids) induces energy deficiency with symptoms depending on the macronutrient: carbohydrates with watery acidic diarrhea; protein with rapid malnutrition, edema, and hypoalbuminemia; and lipids with malnutrition, steatorrhea and hypocholesterolemia. Ionic malabsorption (Cl and Na) is responsible for severe and rapid dehydration sometimes with prenatal abnormalities (polyhydramnios and bowel dilatation).
View Article and Find Full Text PDFBackground: Sucrose-isomaltase deficiency (SID) remains underdiagnosed. Absent or reduced enzyme activity promotes diarrhea, abdominal bloating, and flatulence from undigested and malabsorbed disaccharides. Frequency and severity of gastrointestinal symptoms may be associated with the type of carbohydrates consumed.
View Article and Find Full Text PDFCongenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.
Arch Dis Child
September 2015
Department of Paediatric Gastroenterology, The General Infirmary at Leeds, Leeds, West Yorkshire, UK.
Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit.
View Article and Find Full Text PDFCongenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy.
J Pediatr Gastroenterol Nutr
October 2009
Department of Pediatrics II, Hannover Medical School, Hannover, Germany.
13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.
J Pediatr Gastroenterol Nutr
April 2009
US Department of Agriculture Agricultural Research Service, Children's Nutrition Research Center, Departments of Pediatrics-Nutrition, Baylor College of Medicine, Houston, TX 77030, USA.
Background: Congenital sucrase-isomaltase deficiency (CSID) is characterized by absence or deficiency of the mucosal sucrase-isomaltase enzyme. Specific diagnosis requires upper gastrointestinal biopsy with evidence of low to absent sucrase enzyme activity and normal histology. The hydrogen breath test (BT) is useful, but is not specific for confirmation of CSID.
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