Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.

نویسنده

  • William R Treem
چکیده

30. Chantret I, Lacasa M, Chevalier G, et al. Sequence of the complete cDNA and the 50 structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase. Biochem J 1992; 285:915–23. 31. Nichols BL, Eldering J, Avery S, et al. Human small intestinal maltaseglucoamylase cDNA cloning. Homology to sucrase-isomaltase. J Biol Chem 1998;273:3076–81. 32. Nichols BL, Avery S, Sen P, et al. The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities. Proc Natl Acad Sci U S A 2003;100:1432–7. 33. Quezada-Calvillo R, Robayo-Torres C, et al. Luminal substrate ‘‘brake’’ on mucosal maltase-glucoamylase activity regulates total rate of starch digestion to glucose. J Pediatr Gastroenterol Nutr 2007;45:32–43. 34. Quezada-Calvillo R, Sim L, Ao Z, et al. Luminal starch substrate ‘‘brake’’ on maltase-glucoamylase activity is located within the glucoamylase subunit. J Nutr 2008;138:685–92. 35. Quezada-Calvillo R, Robayo-Torres C, Opekun AR, et al. Contribution of mucosal maltase-glucoamylase activities to mouse small intestinal starch alpha-glucogenesis. J Nutr 2007;137:1725–33. 36. Nichols BL, Quezada-Calvillo R, Robayo-Torres CC, et al. Mucosal maltase-glucoamylase plays a crucial role in starch digestion and prandial glucose homeostasis of mice. J Nutr 2009;139:684–90. 37. Jones K, Sim L, Mohan S, et al. Mapping the intestinal alpha-glucogenic enzyme specificities of starch digesting maltase-glucoamylase and sucrase-isomaltase. Bioorg Med Chem 2011;19:3929–34. 38. Eskandari R, Jones K, Rose DR, et al. Selectivity of 30-O-methylponkoranol for inhibition of Nand C-terminal maltase glucoamylase and sucrase isomaltase, potential therapeutics for digestive disorders or their sequelae. Bioorg Med Chem Lett 2011;21:6491–4. 39. Sim L, Willemsma C, Mohan S, et al. Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains. J Biol Chem 2010;285:1763–70. 40. Sim L, Quezada-Calvillo R, Sterchi EE, et al. Human intestinal maltaseglucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity. J Mol Biol 2008;375:782–92. 41. Krasilnikoff PA, Gudman-Hoyer E, Moltke HH. Diagnostic value of disaccharide tolerance tests in children. Acta Paediatr Scand 1975; 64:693–8. 42. Perman JA, Barr RG, Watkins JB. Sucrose malabsorption in children: noninvasive diagnosis by interval breath hydrogen determination. J Pediatr 1978;93:17–22. 43. Douwes AC, Fernandes J, Jongbloed AA. Diagnostic value of sucrose tolerance test in children evaluated by breath hydrogen measurement. Acta Paediatr Scand 1980;69:79–82. 44. Lifschitz CH, Irving CS, Gopalakrishna GS, et al. Carbohydrate malabsorption in infants with diarrhea studied with the breath hydrogen test. J Pediatr 1983;102:371–5. 45. Davidson GP, Robb TA. Detection of primary and secondary sucrose malabsorption in children by means of the breath hydrogen technique. Med J Aust 1983;2:29–32. 46. Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, et al. C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. J Pediatr Gastroenterol Nutr 2009;48:412–8.

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The clinical consequences of sucrase-isomaltase deficiency

Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express varying degrees of clinical illness, most commonly causing chronic diarrhea, abdominal pain, and bloating. These symptoms are also present with secondary sucrase-isomaltase deficiency. Rec...

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Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.

Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transport-incompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannose-rich precursor in the endoplasmic reticulum (ER), ER-G...

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Identification of a Glutamine to Proline Substitution That Leads to a Transport Block of Sucrase-Isomaltase in a Pre-Golgi Compartment

Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transportincompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannoserich precursor in the endoplasmic reticulum (ER), ER– Go...

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Transient sucrose and starch intolerance.

9. Protein and amino acids. In: Otten JJ, Hellwig JP, Meyers LD, eds. Dietary Reference Intakes: The Essential Guide to Nutrient Requirements. Washington DC: The National Academies Press; 2006: 144–155. 10. Congenital sucrase-isomaltase deficiency. www.CSIDinfo.com. Published December 18, 2006. Accessed February 15, 2012. 11. Sucrose and starch in foods. www.CSIDinfo.com. Published December 18,...

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Breath hydrogen test and sucrase isomaltase deficiency.

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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Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.

Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive human intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase, the components of the intestinal integral membrane glycoprotein sucrase-...

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عنوان ژورنال:
  • Journal of pediatric gastroenterology and nutrition

دوره 55 Suppl 2  شماره 

صفحات  -

تاریخ انتشار 2012