Summary
A 40-year-old man with sucrase-isomaltase deficiency, diagnosed 14 years previously, presented with troublesome diarrhea. Brush-border alkaline phosphatase and all disaccharidases, except lactase, were significantly depressed. Dietary assessment revealed severe self-imposed carbohydrate restriction to about 25 g/day. A 150-g carbohydrate diet with restricted starch and no sucrose over nine months resulted in normal trehalase and alkaline phosphatase activities, and maltase activity improved to half normal. Sucrase and isomaltase remained depressed and did not change after three weeks of sucrose 50 g/day. It is concluded that a self-imposed therapeutic diet of severe carbohydrate restriction resulted in secondary brush-border enzyme deficiencies.
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Weijer HA, van de Kamer JH, Mossell DAA, Dicke WK: Diarrhoea caused by deficiency of sugar splitting enzymes. Lancet 2:296–297, 1960.
Weijers HA, van de Kamer JH, Dicke WK, Ijsseling I: Diarrhoea caused by deficiency of sugar splitting enzymes. Acta Paediatr 50:55–71, 1961
Anderson CM, Messer M, Townley RRW, Freeman M: Intestinal sucrase and isomaltase deficiency in two siblings. Paediatrics 31:1003–1010, 1963
Burgess EA, Levin B, Mahalanabis D, Tonge RE: Hereditary sucrose intolerance: Levels of sucrase activity injejunal mucosa. Arch Dis Child 39:431–443, 1964
Kerry KR, Townley RRW: Genetic aspects of intestinal sucrase-isomaltase deficiency. Aust Paediatr J 1:223–225, 1965
Iverson P: Tiltaelde af Kulhadratyspepsi. Nord Med 16:2860, 1942
Jensen P: Familial saccharase deficiency entailing intolerance to cane sugar. Acta Paediatr Suppl 140:119, 1963.
Sonntag WM, Brill ML, Troyer WE, Welsh JD, Semenza G, Prader A: Sucrose-isomaltose malabsorption in an adult female. Gastroenterology 47:18–25, 1964
Neale G, Clarke M, Levin B: Intestinal sucrase deficiency presenting as sucrose-intolerance in adult life. Br Med J 2:1223–1225, 1965.
Roy-Choudhury DC, Nicholson GI, Cooke WT: Simple capsule for multiple intestinal biopsy specimens. Lancet 2:185–186, 1964
Peters TJ: Analytical subcellular fractionation of jejunal biopsy specimens: Methodology and characterization of the organelles in normal tissue. Clin Sci 61:557–574, 1976
Peters TJ, Batt RM, Heath JR, Tilleray J: The microassay of intestinal disaccharidases. Biochem Med 15:145–148, 1976
Dahlqvist A: Method of assay of intestinal disaccharidases. Anal Biochem 7:18–25, 1964
Auricchio S, Semenza G, Rubino A: Multiplicity of human intestinal disaccharidases II. Characterization of the individual maltases. Biochim Biophys Acta 96:498–508, 1965
Schmitz J, Commegrain C, Maestracci D, Rey J: Absence of brush border sucrase-isomaltase complex in congenital sucrose intolerance. Biomedicine 27:440–443, 1975
Maestracci D, Preiser H, Hedges T, Schmitz J, Crane RK: Enzymes of the human intestinal brush border membrane. Identification after gel electrophoretic separation. Biochim Biophys Acta 382:147–156, 1975
Rosensweig NS, Herman RH: Control of jejunal sucrase and maltase activity by dietary sucrose or fructose in man. A model for the study of enzyme regulation in man. J Clin Invest 47:2253–2262, 1968
Prader A, Auricchio S: Defects of intestinal disaccharide absorption, Annu Rev Med 16:345–458, 1965
Cooper BT, Candy DCA, Harries JT, Peters TJ: Subcellular fractionation studies of the intestinal mucosa in congenital sucrase-isomaltase deficiency. Clin Sci 51:181–185, 1979
Burke V, Kerry KR, Anderson CM: The relationship of dietary lactose to refractory diarrhoea in infancy. Aust Paediatr J 1:147–160, 1965
Sheehy TW, Anderson PR: Disaccharidase activity in normal and diseased small bowel. Lancet 2:1–4, 1965
Gudmand-Höyer E, Söeberg B: Disaccharidase activity in the small intestinal mucosa in cases with acute enteritis. Scand J Gastroenterol 9:405–409, 1974
Plotkin GR, Isselbacher KJ: Secondary disaccharidase deficiency in adult celiac disease and other malabsorption states. N Engl J Med 271:1033–1037, 1964
Lifshitz F, Klotz AP, Holman GH: Intestinal disaccharidase deficiencies in gluten sensitive enteropathy. Am J Dig Dis 10:47–57, 1965
Kern F, Struthers JE, Attwood WL: Lactose intolerance as a cause of steatorrhoea in an adult. Gastroenterology 45:477–487, 1963
Welsh JD: Isolated lactase deficiency in humans. Report on 100 patients. Medicine (Baltimore) 49:257–277, 1970
Auricchio S, Rubino A, Prader A, Rey J, Jos J, Frezal J, Davidson M: Intestinal glucosidase activities in congenital malabsorption of disaccharides. J Pediatr 66:555–564, 1965
Schmitz J, Rey J, Hadorn B: Sucrase-isomaltase deficiency. N Engl J Med 295:902–903, 1976
Ringrose RE, Preiser H, Welsh JD: Sucrase-isomaltase (palatinase) deficiency diagnosed in adulthood. Dig Dis Sci 25:384–387, 1980
Preiser H, Menard D, Crane RK, Cerda JJ: Deletion of enzyme protein from the brush border membrane in sucraseisomaltase deficiency. Biochim Biophys Acta 363:279–282, 1974
Freiburghaus AU, Dubs R, Hadorn B, Gaze H, Mauri HP, Gitzelmann R: The brush border membrane in hereditary sucrase-isomaltase deficiency: Abnormal protein and presence of immunoreactive enzyme. Eur J Clin Invest 7:455–459, 1977
Knudson KB, Bradley EM, Lecocq FR, Bellamy HM, Welsh JD: Effect of fasting and refeeding on the histology and the disaccharidase activity of the human intestine. Gastroenterology 55:51–56, 1968
Knudsen KB, Welsh JD, Kronenberg RS: Effect of non lactose diet on human intestinal disaccharidase activity. Am J Dig Dis 13:593–597, 1968
Rosensweig NS, Herman RH: Diet and disaccharidases. Am J Clin Nutr 22:99–102, 1969
Cuatrecasas P, Lockwood DH, Caldwell JR: Lactase deficiency in the adult: A common occurrence. Lancet 1:14–18, 1965
Keusch GT, Troncase FJ, Travarama B, Prinyanont P, Anderson PR, Bharmarapravathi N: Lactase deficiency in Thailand: Effect of prolonged lactose feeding. Am J Clin Nutr 22:637–641, 1969
Gilat T, Russo S, Gelman-Malachi E, Alder TAM: Lactase in man: A non-adaptable enzyme. Gastroenterology 62:1125–1127, 1972
Jansen W, Que CS, Veeger W: Primary combined saccharase and isomaltase deficiency. Arch Intern Med 116:1125–1127, 1972.
Starnes CW, Welsh JD: Intestinal sucrase-isomaltase deficiency and renal calculi. N Engl J Med 202:1023–1024, 1970
Peters TJ, Heath JR, Wansbrough-Jones MH, Doe WF: Enzyme activities and properties of lysosomes and brush borders from control subjects and patients with coeliac disease. Clin Sci 48:259–267, 1975
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Cooper, B.T., Scott, J., Hopkins, J. et al. Adult onset sucrase-isomaltase deficiency with secondary disaccharidase deficiency resulting from severe dietary carbohydrate restriction. Digest Dis Sci 28, 473–477 (1983). https://doi.org/10.1007/BF02430538
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DOI: https://doi.org/10.1007/BF02430538