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Volumn 55, Issue SUPPL.2, 2012, Pages

Clinical aspects and treatment of congenital sucrase-isomaltase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE; PLACEBO; SUCRASE ISOMALTASE; SUCROSE;

EID: 84868637565     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/01.mpg.0000421401.57633.90     Document Type: Conference Paper
Times cited : (74)

References (46)
  • 1
    • 0009689656 scopus 로고
    • Diarrhoea caused by deficiency of sugar-splitting enzymes
    • Weijers H, Va De Kamer J, Mossel D, et al. Diarrhoea caused by deficiency of sugar-splitting enzymes. Lancet 1960;6:296-7.
    • (1960) Lancet , vol.6 , pp. 296-297
    • Weijers, H.1    Va De Kamer, J.2    Mossel, D.3
  • 2
    • 0029015359 scopus 로고
    • Congenital sucrase-isomaltase deficiency
    • Treem W. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1995;21:1-14.
    • (1995) J Pediatr Gastroenterol Nutr , vol.21 , pp. 1-14
    • Treem, W.1
  • 3
    • 0026674130 scopus 로고
    • Sequence of the complete cDNA and the 50 structure of the human sucrase-isomaltase gene possible homology with a yeast glucoamylase
    • 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.
    • (1992) Biochem J , vol.285 , pp. 915-923
    • Chantret, I.1    Lacasa, M.2    Chevalier, G.3
  • 4
    • 84868671384 scopus 로고    scopus 로고
    • Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID
    • Uhrich S, Wu Z, Huang J, et al. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr 2012;55(Suppl 2):S34-5.
    • (2012) J Pediatr Gastroenterol Nutr , vol.55 , Issue.SUPPL2
    • Uhrich, S.1    Wu, Z.2    Huang, J.3
  • 5
    • 60449099236 scopus 로고    scopus 로고
    • Compound heterozygous mutations affect protein folding and function in patients with congenital sucraseisomaltase deficiency
    • Alfalah M, Keiser M, Leeb T, et al. Compound heterozygous mutations affect protein folding and function in patients with congenital sucraseisomaltase deficiency. Gastroenterology 2009;136:88-92.
    • (2009) Gastroenterology , vol.136 , pp. 88-92
    • Alfalah, M.1    Keiser, M.2    Leeb, T.3
  • 6
    • 84868666262 scopus 로고    scopus 로고
    • Congenital sucrase-isomaltase deficiency heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex
    • Naim H.Y., Heine M, Zimmer K.P, et al. Congenital sucrase-isomaltase deficiency heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex J Pediatr Gastroenterol Nutr 2012 55 Suppl2
    • (2012) J Pediatr Gastroenterol Nutr , vol.55 , Issue.SUPPL2
    • Naim, H.Y.1    Heine, M.2    Zimmer, K.P.3
  • 7
    • 14544275997 scopus 로고    scopus 로고
    • Origins and evolution of the Western diet health implications for the 21st centrury
    • Codain L., Eaton S.B., Sebastian A.et al. Origins and evolution of the Western diet health implications for the 21st centrury Am J Clin Nutr 2005;81:341-54.
    • (2005) Am J Clin Nutr , vol.81 , pp. 341-354
    • Codain, L.1    Eaton, S.B.2    Sebastian, A.3
  • 9
    • 0024195194 scopus 로고
    • Dietary regulation of small intestinal disaccharidases
    • Goda T, Koldovsky O. Dietary regulation of small intestinal disaccharidases. World Rev Nutr Diet 1988 57:275-329.
    • (1988) World Rev Nutr Diet , vol.57 , pp. 275-329
    • Goda, T.1    Koldovsky, O.2
  • 10
    • 0024603733 scopus 로고
    • Differential effects of thyroxine and cortisone on jejunal sucrase expression in suckling rats
    • Yeh KY, Yeh M, Holt PR. Differential effects of thyroxine and cortisone on jejunal sucrase expression in suckling rats. Am J Physiol 1989; 256:604-12.
    • (1989) Am J Physiol , vol.256 , pp. 604-612
    • Yeh, K.Y.1    Yeh, M.2    Holt, P.R.3
  • 11
    • 28444479143 scopus 로고    scopus 로고
    • Decreased sucrase and lactase activity in iron deficiency is accompanied by reduced gene expression and upregulation of the transcriptional repressor PDX-1
    • West A, Oates P. Decreased sucrase and lactase activity in iron deficiency is accompanied by reduced gene expression and upregulation of the transcriptional repressor PDX-1. Am J Physiol Gastrointest Liver Physiol 2005;289:G1108-14.
    • (2005) Am J Physiol Gastrointest Liver Physiol , vol.289
    • West, A.1    Oates, P.2
  • 12
    • 77956629122 scopus 로고    scopus 로고
    • Natural products as alpha-amylase and alpha-glucosidase inhibitors and their hypoglycaemic potential in the treatment of diabetes an update
    • Tundis R, Loizzo R, Menichini F. Natural products as alpha-amylase and alpha-glucosidase inhibitors and their hypoglycaemic potential in the treatment of diabetes an update. Mini Rev Med Chem 2010;10:315- 31.
    • (2010) Mini Rev Med Chem , vol.10 , pp. 315-331
    • Tundis, R.1    Loizzo, R.2    Menichini, F.3
  • 13
    • 0015820990 scopus 로고
    • Sucrose, lactose, and glucose intolerance in northern Alaskan Eskimos
    • Bell R, Draper H, Bergan JG. Sucrose, lactose, and glucose intolerance in northern Alaskan Eskimos. Am J Clin Nutr 1973;26:1185-90.
    • (1973) Am J Clin Nutr , vol.26 , pp. 1185-1190
    • Bell, R.1    Draper, H.2    Bergan, J.G.3
  • 14
    • 0018071982 scopus 로고
    • Disaccharide malabsorption and dietary patterns in two Canadian Eskimo communities
    • Ellestad-Sayad J, Haworth J, Hildes J. Disaccharide malabsorption and dietary patterns in two Canadian Eskimo communities. Am J Clin Nutr 1978;31:1473-8.
    • (1978) Am J Clin Nutr , vol.31 , pp. 1473-1478
    • Ellestad-Sayad, J.1    Haworth, J.2    Hildes, J.3
  • 16
    • 0018162754 scopus 로고
    • Intestinal disaccharidase activities in relation to age, race, and mucosal damage
    • Welsh J, Poley J, Bhatia M, et al. Intestinal disaccharidase activities in relation to age, race, and mucosal damage. Gastroenterology 1978;75 847-55.
    • (1978) Gastroenterology , vol.75 , pp. 847-855
    • Welsh, J.1    Poley, J.2    Bhatia, M.3
  • 17
    • 0033015746 scopus 로고    scopus 로고
    • Disaccharidase activities in children Normal values and comparison based on symptoms and histological changes
    • Gupta S, Chong S, Fitzgerald J. Disaccharidase activities in children normal values and comparison based on symptoms and histological changes. J Pediatr Gastroenterol Nutr 1999;28:246-51.
    • (1999) J Pediatr Gastroenterol Nutr , vol.28 , pp. 246-251
    • Gupta, S.1    Chong, S.2    Fitzgerald, J.3
  • 18
    • 34347359674 scopus 로고    scopus 로고
    • Luminal substrate -brake- on mucosal maltase-glucoamylase activity regulates total rate of starch digestion to glucose
    • Quezada-Calvillo R, Robayo-Torres C, Ao Z, et al. Luminal substrate -brake- on mucosal maltase-glucoamylase activity regulates total rate of starch digestion to glucose. J PediatrGastroenterol Nutr 2007; 45:32-43.
    • (2007) J PediatrGastroenterol Nutr , vol.45 , pp. 32-43
    • Quezada-Calvillo, R.1    Robayo-Torres, C.2    Ao, Z.3
  • 19
    • 0033179720 scopus 로고    scopus 로고
    • Onset of sucrase-isomaltase deficiency in late adulthood
    • Muldoon C, Maguire P, Gleeson F. Onset of sucrase-isomaltase deficiency in late adulthood. Am J Gastroenterol 1999;94:2298-9.
    • (1999) Am J Gastroenterol , vol.94 , pp. 2298-2299
    • Muldoon, C.1    Maguire, P.2    Gleeson, F.3
  • 20
    • 0018852806 scopus 로고
    • Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood
    • Ringrose R, Preiser H, Welsh J. Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood. Dig Dis Sci 1980;25:384-7.
    • (1980) Dig Dis Sci , vol.25 , pp. 384-387
    • Ringrose, R.1    Preiser, H.2    Welsh, J.3
  • 21
    • 0037010095 scopus 로고    scopus 로고
    • Disachharidase activities in dyspeptic children
    • Karnsakul W, Luginbuel U, Hahn D, et al. Disachharidase activities in dyspeptic children biochemical and molecular investigations of maltaseglucoamylase activity. . J Pediatr Gastroenterol Nutr 2002;35:551-6.
    • (2002) J Pediatr Gastroenterol Nutr , vol.5 , pp. 551-556
    • Karnsakul, W.1    Luginbuel, U.2    Hahn, D.3
  • 22
    • 84877582478 scopus 로고    scopus 로고
    • Congenital sucrase-isomaltase deficiency (CSID) in the era of Sucraid
    • Treem WR, Douglas M, Duong S, et al. Congenital sucrase-isomaltase deficiency (CSID) in the era of Sucraid. J Pediatr Gastroenterol Nutr 2009;53(Suppl 1):E85.
    • (2009) J Pediatr Gastroenterol Nutr , vol.53 , Issue.SUPPL1
    • Treem, W.R.1    Douglas, M.2    Duong, S.3
  • 23
    • 84989990014 scopus 로고
    • Genetic aspects of intestinal sucrase-isomaltase deficiency
    • Kerry K, Townley R. Genetic aspects of intestinal sucrase-isomaltase deficiency. Aust Paediatr J 1965;1:223-35.
    • (1965) Aust Paediatr J , vol.1 , pp. 223-235
    • Kerry, K.1    Townley, R.2
  • 24
    • 0015423136 scopus 로고
    • Intraluminal and mucosal starch digestion in congenital deficiency of intestinal sucrase and isomaltase activities
    • Auricchio S, Ciccimarra F, Moauro L, et al. Intraluminal and mucosal starch digestion in congenital deficiency of intestinal sucrase and isomaltase activities. Pediatr Res 1972;6:832-9.
    • (1972) Pediatr Res , vol.6 , pp. 832-839
    • Auricchio, S.1    Ciccimarra, F.2    Moauro, L.3
  • 25
    • 0029917825 scopus 로고    scopus 로고
    • Sucrase-isomaltse deficiency changing pattern over two decades
    • Baudon J, Veinberg F, Thiolouse E, et al. Sucrase-isomaltse deficiency changing pattern over two decades. J Pediatr Gastroenterol Nutr 1996 22: 284-288
    • (1996) J Pediatr Gastroenterol Nutr , vol.22 , pp. 284-288
    • Baudon, J.1    Veinberg, F.2    Thiolouse, E.3
  • 26
    • 0029898558 scopus 로고    scopus 로고
    • Clinical heterogeneity in congenital sucrase-isomaltase deficiency
    • Treem WR Clinical heterogeneity in congenital sucrase-isomaltase deficiency J Pediatr 1996 128:727-9.
    • (1996) J. Pediatr , vol.128 , pp. 727-729
    • Treem, W.R.1
  • 27
    • 84877577556 scopus 로고    scopus 로고
    • Congenital sucrase-isomaltase deficiency presenting with failure to thrive hypercalcemia and nephrocalcinosis Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
    • Belmont J, Reid B, Taylor W, et al Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis BMC Pediatr
    • (2002) BMC Pediatr , vol.2 , pp. 1-7
    • Belmont, J.1    Reid, B.2    Taylor, W.3
  • 28
    • 0014967644 scopus 로고
    • Intestinal sucrase-isomaltase deficiency and renal calculi
    • . Starnes C, Welsh JD. Intestinal sucrase-isomaltase deficiency and renal calculi. N Engl J Med 1970 282:1023-4.
    • (1970) N Engl J Med , vol.282 , pp. 1023-1024
    • Starnes, C.1    Welsh, J.D.2
  • 29
    • 0029982285 scopus 로고    scopus 로고
    • Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucraseisomaltase deficiency
    • Newton T, Murphy M, Booth IW. Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucraseisomaltase deficiency. J Pediatr 1996 128:753-6.
    • J Pediatr 1996 , vol.128 , pp. 753-756
    • Newton, T.1    Murphy, M.2    Booth, I.W.3
  • 30
    • 0026726029 scopus 로고
    • Chronic non-specific diarrhea of childhood
    • Treem WR. Chronic non-specific diarrhea of childhood. Clin Pediatr 1992;31:413-20.
    • (1992) Clin Pediatr , vol.31 , pp. 413-420
    • Treem, W.R.1
  • 31
    • 0029796056 scopus 로고    scopus 로고
    • Fecal short-chain fatty acids in patients with diarrhea-predominant irritable bowel syndrome studies of carbohydrate fermentation
    • Treem WR, Ahsan N, Kastoff G, et al Fecal short-chain fatty acids in patients with diarrhea-predominant irritable bowel syndrome studies of carbohydrate fermentation. J Pediatr Gastroenterol Nutr 1996 23:280-6.
    • (1996) J Pediatr Gastroenterol Nutr , vol.23 , pp. 280-286
    • Treem, W.R.1    Ahsan, N.2    Kastoff, G.3
  • 32
    • 0022909250 scopus 로고
    • Maltase-glucoamylase and residual isomaltase in sucrose-intolerant patients
    • Skovbjerg H, Krasilnikoff P. Maltase-glucoamylase and residual isomaltase in sucrose-intolerant patients. J Pediatr Gastroenterol Nutr 1986;5:365-71.
    • (1986) J Pediatr Gastroenterol Nutr , vol.5 , pp. 365-371
    • Skovbjerg, H.1    Krasilnikoff, P.2
  • 33
    • 0028280899 scopus 로고
    • Small intestinal glucoamylase deficiency and starch malabsorption a newly recognized alpha-glucosidase deficiency in children
    • Lebenthal E, U KM, Zheng BY, et al. Small intestinal glucoamylase deficiency and starch malabsorption a newly recognized alpha-glucosidase deficiency in children. J Pediatr 1994;124:541-6.
    • (1994) J Pediatr , vol.124 , pp. 541-546
    • Lebenthal, E.1    U, K.M.2    Zheng, B.Y.3
  • 34
    • 37549056832 scopus 로고    scopus 로고
    • Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption
    • Sander P, Alfalah M, Keiser M, et al. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat 2006 27:119.
    • (2006) Hum Mutat , vol.27 , pp. 119
    • Sander, P.1    Alfalah, M.2    Keiser, M.3
  • 35
    • 0024464478 scopus 로고
    • Small bowel biopsy for disaccharidase levels evidence that endoscopic forceps biopsy can replace the Crosby capsule
    • Smith J, Mayberry J, Ansell ID, et al. Small bowel biopsy for disaccharidase levels. evidence that endoscopic forceps biopsy can replace the Crosby capsule. Clin Cim Acta 1989 183: 317-321
    • (1989) Clin Cim Acta , vol.183 , pp. 317-321
    • Smith, J.1    Mayberry, J.2    Ansell, I.D.3
  • 36
    • 0017855441 scopus 로고
    • Sucrose malabsorption in children noninvasive diagnosis by interval breath hydrogen determination
    • Perman J, Barr R, Watkins JB. Sucrose malabsorption in children noninvasive diagnosis by interval breath hydrogen determination. Pediatrics 1978 93:17-22.
    • (1978) Pediatrics , vol.93 , pp. 17-22
    • Perman, J.1    Barr, R.2    Watkins, J.B.3
  • 37
    • 0029825943 scopus 로고    scopus 로고
    • Evaluation of differential disaccharide excretion in urine for non-invasive investigation of altered intestinal disaccharidase activity cause by (-glucosidase inhibition, primary hypolactasia, and celiac disease
    • Bjarnason I, Batt R, Catt S, et al. Evaluation of differential disaccharide excretion in urine for non-invasive investigation of altered intestinal disaccharidase activity cause by (-glucosidase inhibition, primary hypolactasia, and celiac disease. Gut 1996;39:374-
    • (1996) Gut , vol.39 , pp. 374-381
    • Bjarnason, I.1    Batt, R.2    Catt, S.3
  • 38
    • 67650928174 scopus 로고    scopus 로고
    • 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients
    • Robayo-Torres C, Opekun A, Quezada-Calvillo R, et al 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. J Pediatr Gastroenterol Nutr 2009 48:412-8.
    • (2009) J Pediatr Gastroenterol Nutr , vol.48 , pp. 412-418
    • Robayo-Torres, C.1    Opekun, A.2    Quezada-Calvillo, R.3
  • 39
    • 0015358626 scopus 로고
    • Congenital sucraseisomaltase deficiency Observations over a period of 6 years
    • Antonowicz I, Lloyd-Still J, Khaw KT, et al. Congenital sucraseisomaltase deficiency. Observations over a period of 6 years. Pediatrics 1972;49:847-53.
    • (1972) Pediatrics , vol.49 , pp. 847-853
    • Antonowicz, I.1    Lloyd-Still, J.2    Khaw, K.T.3
  • 40
    • 0017823611 scopus 로고
    • Sucrase-isomaltase deficiency A follow-up report
    • Kilby A, Burgess E, Wigglesworth S, et al. Sucrase-isomaltase deficiency. A follow-up report. Arch Dis Child 1978;53:677-9.
    • (1978) Arch Dis Child , vol.53 , pp. 677-679
    • Kilby, A.1    Burgess, E.2    Wigglesworth, S.3
  • 41
    • 0023179963 scopus 로고
    • Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucraseisomaltase deficiency
    • Harms H, Bertele-Harms R, Bruer-Kleis D. Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucraseisomaltase deficiency. N Engl J Med 1987;316:1306-9.
    • (1987) N Engl J Med , vol.316 , pp. 1306-1309
    • Harms, H.1    Bertele-Harms, R.2    Bruer-Kleis, D.3
  • 42
    • 0027317632 scopus 로고
    • Evaluation of liquid yeastderived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency
    • Treem WR, Ahsan N, Sullivan B, et al. Evaluation of liquid yeastderived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency. Gastroenterology 1993;105:1061-8.
    • (1993) Gastroenterology , vol.105 , pp. 1061-1068
    • Treem, W.R.1    Ahsan, N.2    Sullivan, B.3
  • 43
    • 0033008474 scopus 로고    scopus 로고
    • Sacrosidase therapy for congenital sucrase-isomaltase deficiency
    • Treem WR, McAdams L, Stanford L, et al. Sacrosidase therapy for congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1999;28:137-42.
    • (1999) J Pediatr Gastroenterol Nutr , vol.28 , pp. 137-142
    • Treem, W.R.1    McAdams, L.2    Stanford, L.3
  • 44
    • 79959822505 scopus 로고    scopus 로고
    • Sacrosidase trial in chronic non-specific diarrhea in children
    • Rahhal R, Bishop W. Sacrosidase trial in chronic non-specific diarrhea in children. Open Pediatr Med J 2008;2:35-8.
    • (2008) Open Pediatr Med J , vol.2 , pp. 35-38
    • Rahhal, R.1    Bishop, W.2
  • 45
    • 70349755938 scopus 로고    scopus 로고
    • Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy
    • Lucke T, Keiser M, Illsinger S, et al. Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy effects of sacrosidase therapy. J Pediatr Gastroenterol Nutr 2009 49: 485-487
    • (2009) J Pediatr Gastroenterol Nutr , vol.49 , pp. 485-487
    • Lucke, T.1    Keiser, M.2    Illsinger, S.3
  • 46
    • 0034840101 scopus 로고    scopus 로고
    • Synergistic hydrolysis of crude corn startch by a-amylases and glucoamylases of various origins
    • Liakopouloou-Kyriakides M, Karakatsanis A, Stamatoudis M, et al. Synergistic hydrolysis of crude corn startch by a-amylases and glucoamylases of various origins. Cereal Chem 2001;78:603-7.
    • (2001) Cereal Chem , vol.78 , pp. 603-607
    • Liakopouloou-Kyriakides, M.1    Karakatsanis, A.2    Stamatoudis, M.3


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