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Primary Combined Saccharase and Isomaltase Deficiency: Report of Two Adult Siblings of Consanguineous Parentage

Primary Combined Saccharase and Isomaltase Deficiency: Report of Two Adult Siblings of... Abstract CARBOHYDRATE intolerance due to congenital or acquired deficiency of intestinal disaccharidases has been recognized repeatedly since the studies of Dahlquist.1-3 Lactose,4,5 saccharose 6-9 and maltose intolerance,6 as well as a combination of saccharose and isomaltose intolerance,10-13 have been described in children as inborn errors of metabolism. It has been observed that children with a complete deficiency of a disaccharidase may, when they are older, show spontaneous clinical improvement.9 To explain this phenomenon the hypothesis of an adaptation to the incriminated disaccharide, due perhaps to an increase in activity of enzymes with normally a weak action, was put forward.9-13 This hypothesis might explain the apparent rarity of congenital disaccharidase deficiency in adults. Brief reports, without enzyme studies, have been published on congenital saccharase deficiency in an 18-yearold boy 14 and in the mother of three children with the same defect.15 Sonntag et al16described the only case of saccharose-isomaltose References 1. Invertase: I Sumner unit is equivalent to the enzyme activity that forms 1 mg of invert sugar out of 6 ml of a 5.4% saccharose solution at pH 4.7 and 20 C in five minutes. 2. Glucamylase-Amylase S.G.: 1 unit is equivalent to the enzyme activity that helps to split for 1% 800 mg of soluble starch in 30 ml of 0.063 M acetate buffer at pH 4.7 and 37 C in one hour. 3. Bimyconase=2,500 units of glucamylase+7,500 IU of invertase per sachet. 4. Dahlquist, A.: The Location of Carbohydrates in the Digestive Tract of the Pig , Biochem J 78:282, 1961. 5. Dahlquist, A., and Borgström, B.: Digestion and Absorption of Disaccharides in Man , Biochem J 81:411, 1961. 6. Dahlquist, A.: Intestinal Disaccharidases and Disaccharide Intolerance, editorial , Gastroenterology 43:694, 1962. 7. Holzel, A.; Schwarz, V.; and Sutcliffe, K.W.: Defective Lactose Absorption Causing Malnutrition in Infancy , Lancet 1:1126, 1959.Crossref 8. Holzel, A.; Mereu, T.; and Thomson, M.L.: Severe Lactose Intolerance in Infancy , Lancet 2: 1346, 1962.Crossref 9. Weyers, H.A., et al: Diarrhea Caused by Deficiency of Sugarsplitting Enzymes: I , Acta Pediat 50:55,1961.Crossref 10. Auricchio, S., et al: Saccharoseintoleranz: Durchfall infolge hereditären Mangels an intestinaler Saccharaseaktivität , Helv Paediat Acta 16: 483, 1961. 11. Prader, A.; Auricchio, S.; and Mürset, G.: Durchfall infolge hereditären Mangels an intestinaler Saccharaseaktivität , Schweiz Med Wschr 91: 465, 1961. 12. Prader, A.; Semenza, G.; and Auricchio, S.: Intestinale Absorption und Malabsorption der Disaccharide , Schweiz Med Wschr 93:1272, 1963. 13. Auricchio, S., et al: Intestinal Isomaltase Deficiency in Patients With Hereditary Sucrose and Starch Intolerance , Lancet 1:1303, 1962.Crossref 14. Auricchio, S., et al: Isomaltose Intolerance Causing Decreased Ability to Utilize Dietary Starch , J Pediat 62:165, 1963.Crossref 15. Anderson, C.M., et al: Intestinal Sucrase and Isomaltase Deficiency in Two Siblings , Pediatrics 31:1003, 1963. 16. Anderson, C.M., et al: Intestinal Isomaltase Deficiency in Patients With Hereditary Sucrose and Starch Intolerance , Lancet 2:556, 1962.Crossref 17. Iversen, P.: Et tilfaede af kulhydrat dyspepsi , Nordisk Med 16:2860, 1942. 18. Jensen, P.E.: Familial Saccharase Deficiency Entailing Intolerance of Cane Sugar , Acta Paediat 140 ( (suppl) ):119, 1963. 19. Sonntag, W.M., et al: Sucrose-Isomaltose Malabsorption in an Adult Woman , Gastroenterology 47:18, 1964. 20. Benson, J.A., et al: The d-xylose Absorption Test in Malabsorption Syndromes , New Eng J Med 256:335, 1957.Crossref 21. Van de Kamer, J.H.; Bokkel, H.H.; and Weyers, H.A.: Rapid Method for Determination of Fat in Faeces , J Biol Chem 177:347, 1949. 22. Schilling, R.E.: Intrinsic Factor Studies: II , J Lab Clin Med 42:860, 1953. 23. Lagerlöf, H.O.: Pancreatic Function and Pancreatic Disease Studied by Means of Secretin , Acta Med Scand Suppl 128:1, 1942. 24. Althausen, T.L., and Ueyeyama, K.A.: New Test of Pancreatic Function Based on Starch Tolerance , Ann Intern Med 41:563, 1954.Crossref 25. Weidenhagen, R., and Lorenz, S.: Palatinose (6-(alfa-Glucopyranosido)-Fructo-furanose), ein neues bakterielles Umwandlungs-produkt der Saccharose , Z Zucker Industr 7:553, 1957. 26. Hagedorn, H.C., and Jensen, B.N.: Zur Mikrobestimmung des Blutzukers mittels Ferricyanid , Biochem Z 135:46, 1923. 27. Crosby, W.H., and Kugler, H.W.: Intraluminal Biopsy of Small Intestine: Intestinal Biopsy Capsule , Amer J Dig Dis 2:236, 1957.Crossref 28. Auricchio, S., et al: Disaccharidase Activities in Human Intestinal Mucosa , Enzym Biol Clin 3: 393, 1963. 29. Auricchio, S., et al: Intestinal Disaccharidase Activity in Congenital Malabsorption of Sucrose and Isomaltose , Lancet 2:914, 1964.Crossref 30. Metzenberg, R.L.: A Gene Affecting the Repression of Invertase and Trehalase in Neurospora , Arch Biochem 96:468, 1962.Crossref 31. Jacob, F., and Monod, J.: Genes de structure et genes de régulation dans la biosynthése des protéines , CR Acad Sci 249:1282, 1959. 32. Jacob, F., and Monod, J.: Genetic Repression, Allosteric Inhibition, and Cellular Differentiation in Cytodifferentiation and Macromolecular Synthesis , M. Locke (ed.), New York: Academic Press, 1963. 33. Iversen, P.: Personal communication to the authors, April 1964. 34. Semenza, G., and Auricchio, S.: Chromatographic Separation of Human Intestinal Disaccharidases , Biochem Biophys Acta 65:172, 1962.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Primary Combined Saccharase and Isomaltase Deficiency: Report of Two Adult Siblings of Consanguineous Parentage

Archives of Internal Medicine , Volume 116 (6) – Dec 1, 1965

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1965.03870060077016
Publisher site
See Article on Publisher Site

Abstract

Abstract CARBOHYDRATE intolerance due to congenital or acquired deficiency of intestinal disaccharidases has been recognized repeatedly since the studies of Dahlquist.1-3 Lactose,4,5 saccharose 6-9 and maltose intolerance,6 as well as a combination of saccharose and isomaltose intolerance,10-13 have been described in children as inborn errors of metabolism. It has been observed that children with a complete deficiency of a disaccharidase may, when they are older, show spontaneous clinical improvement.9 To explain this phenomenon the hypothesis of an adaptation to the incriminated disaccharide, due perhaps to an increase in activity of enzymes with normally a weak action, was put forward.9-13 This hypothesis might explain the apparent rarity of congenital disaccharidase deficiency in adults. Brief reports, without enzyme studies, have been published on congenital saccharase deficiency in an 18-yearold boy 14 and in the mother of three children with the same defect.15 Sonntag et al16described the only case of saccharose-isomaltose References 1. Invertase: I Sumner unit is equivalent to the enzyme activity that forms 1 mg of invert sugar out of 6 ml of a 5.4% saccharose solution at pH 4.7 and 20 C in five minutes. 2. Glucamylase-Amylase S.G.: 1 unit is equivalent to the enzyme activity that helps to split for 1% 800 mg of soluble starch in 30 ml of 0.063 M acetate buffer at pH 4.7 and 37 C in one hour. 3. Bimyconase=2,500 units of glucamylase+7,500 IU of invertase per sachet. 4. Dahlquist, A.: The Location of Carbohydrates in the Digestive Tract of the Pig , Biochem J 78:282, 1961. 5. Dahlquist, A., and Borgström, B.: Digestion and Absorption of Disaccharides in Man , Biochem J 81:411, 1961. 6. Dahlquist, A.: Intestinal Disaccharidases and Disaccharide Intolerance, editorial , Gastroenterology 43:694, 1962. 7. Holzel, A.; Schwarz, V.; and Sutcliffe, K.W.: Defective Lactose Absorption Causing Malnutrition in Infancy , Lancet 1:1126, 1959.Crossref 8. Holzel, A.; Mereu, T.; and Thomson, M.L.: Severe Lactose Intolerance in Infancy , Lancet 2: 1346, 1962.Crossref 9. Weyers, H.A., et al: Diarrhea Caused by Deficiency of Sugarsplitting Enzymes: I , Acta Pediat 50:55,1961.Crossref 10. Auricchio, S., et al: Saccharoseintoleranz: Durchfall infolge hereditären Mangels an intestinaler Saccharaseaktivität , Helv Paediat Acta 16: 483, 1961. 11. Prader, A.; Auricchio, S.; and Mürset, G.: Durchfall infolge hereditären Mangels an intestinaler Saccharaseaktivität , Schweiz Med Wschr 91: 465, 1961. 12. Prader, A.; Semenza, G.; and Auricchio, S.: Intestinale Absorption und Malabsorption der Disaccharide , Schweiz Med Wschr 93:1272, 1963. 13. Auricchio, S., et al: Intestinal Isomaltase Deficiency in Patients With Hereditary Sucrose and Starch Intolerance , Lancet 1:1303, 1962.Crossref 14. Auricchio, S., et al: Isomaltose Intolerance Causing Decreased Ability to Utilize Dietary Starch , J Pediat 62:165, 1963.Crossref 15. Anderson, C.M., et al: Intestinal Sucrase and Isomaltase Deficiency in Two Siblings , Pediatrics 31:1003, 1963. 16. Anderson, C.M., et al: Intestinal Isomaltase Deficiency in Patients With Hereditary Sucrose and Starch Intolerance , Lancet 2:556, 1962.Crossref 17. Iversen, P.: Et tilfaede af kulhydrat dyspepsi , Nordisk Med 16:2860, 1942. 18. Jensen, P.E.: Familial Saccharase Deficiency Entailing Intolerance of Cane Sugar , Acta Paediat 140 ( (suppl) ):119, 1963. 19. Sonntag, W.M., et al: Sucrose-Isomaltose Malabsorption in an Adult Woman , Gastroenterology 47:18, 1964. 20. Benson, J.A., et al: The d-xylose Absorption Test in Malabsorption Syndromes , New Eng J Med 256:335, 1957.Crossref 21. Van de Kamer, J.H.; Bokkel, H.H.; and Weyers, H.A.: Rapid Method for Determination of Fat in Faeces , J Biol Chem 177:347, 1949. 22. Schilling, R.E.: Intrinsic Factor Studies: II , J Lab Clin Med 42:860, 1953. 23. Lagerlöf, H.O.: Pancreatic Function and Pancreatic Disease Studied by Means of Secretin , Acta Med Scand Suppl 128:1, 1942. 24. Althausen, T.L., and Ueyeyama, K.A.: New Test of Pancreatic Function Based on Starch Tolerance , Ann Intern Med 41:563, 1954.Crossref 25. Weidenhagen, R., and Lorenz, S.: Palatinose (6-(alfa-Glucopyranosido)-Fructo-furanose), ein neues bakterielles Umwandlungs-produkt der Saccharose , Z Zucker Industr 7:553, 1957. 26. Hagedorn, H.C., and Jensen, B.N.: Zur Mikrobestimmung des Blutzukers mittels Ferricyanid , Biochem Z 135:46, 1923. 27. Crosby, W.H., and Kugler, H.W.: Intraluminal Biopsy of Small Intestine: Intestinal Biopsy Capsule , Amer J Dig Dis 2:236, 1957.Crossref 28. Auricchio, S., et al: Disaccharidase Activities in Human Intestinal Mucosa , Enzym Biol Clin 3: 393, 1963. 29. Auricchio, S., et al: Intestinal Disaccharidase Activity in Congenital Malabsorption of Sucrose and Isomaltose , Lancet 2:914, 1964.Crossref 30. Metzenberg, R.L.: A Gene Affecting the Repression of Invertase and Trehalase in Neurospora , Arch Biochem 96:468, 1962.Crossref 31. Jacob, F., and Monod, J.: Genes de structure et genes de régulation dans la biosynthése des protéines , CR Acad Sci 249:1282, 1959. 32. Jacob, F., and Monod, J.: Genetic Repression, Allosteric Inhibition, and Cellular Differentiation in Cytodifferentiation and Macromolecular Synthesis , M. Locke (ed.), New York: Academic Press, 1963. 33. Iversen, P.: Personal communication to the authors, April 1964. 34. Semenza, G., and Auricchio, S.: Chromatographic Separation of Human Intestinal Disaccharidases , Biochem Biophys Acta 65:172, 1962.Crossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Dec 1, 1965

References

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