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Digestive Diseases and Sciences

, Volume 25, Issue 5, pp 384–387 | Cite as

Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood

  • Robert E. Ringrose
  • Hannah Preiser
  • Jack D. Welsh
Case Report

Abstract

Although the number of reported patients with primary sucrase-isomaltase deficiency (S-ID) has been stated to be from 75 to 100 (1, 2), we have identified only 12 adults (14 years or more of age) with this deficiency documented by intestinal enzyme assays (3–11). Adults with both S-ID and a primary low lactase level are not included, since they would appear to represent a different situation (12). Sucrase-isomaltase deficiency is a rare cause of maldigestion/malabsorption but is easily diagnosed with present methods. We doubt that the estimated figure of half a million individuals with S-ID in the United States (9) is accurate. However, with three (3, 6, 10) of the previously reported adults coming from our medical center, of over 500 adults who have had intestinal enzyme assays, it is probably more common in adults than present reports would indicate. We have now had the opportunity to study our fourth nonrelated adult patient with S-ID. On the basis of assays of intestinal sucrase activities and enzyme ratios, individuals have been identified as being normal or as heterozygous (reduced sucrase) or homozygous (no sucrase activity) for S-ID. Reviewing our recent patient's case and the findings in other adults, it appears that this separation is not adequate. For this reason, and to bring S-ID as it presents during adulthood into better focus, we are reporting the following case.

Keywords

Public Health Enzyme United States Adult Patient Medical Center 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Editorial: Sucrose malabsorption. Br Med J 1:1558–1559, 1977Google Scholar
  2. 2.
    Gudmand-Hoyer E, Krasilnikoff PA: The effect of sucrose malabsorption on the growth pattern in children. Scand J Gastroenterol 12:103–107, 1977Google Scholar
  3. 3.
    Sonntag WM, Brill ML, Troyer WC, Welsh JD, Semenza G, Prader A: Sucrose-isomaltose malabsorption in an adult woman. Gastroenterology 47:18–25, 1964Google Scholar
  4. 4.
    Jansen W, Que CS, Veeger W: Primary combined saccharase and iso-maltase deficiency. Arch Intern Med 116:879–885, 1965Google Scholar
  5. 5.
    Neale G, Clark M, Levin B: Intestinal sucrase deficiency presenting as sucrose intolerance in adult life. Br Med J 2:1223–1225, 1965Google Scholar
  6. 6.
    Welsh JD, Brown RC: Sucrase-palatinase deficiency. Lancet 2:342, 1966Google Scholar
  7. 7.
    Laws JW, Neale G: Radiological diagnosis of disaccharidase deficiency. Lancet 2:139–143, 1966Google Scholar
  8. 8.
    Pink IJ: Diarrhoea due to sucrase and iso-maltase deficiency. Gut 8:373–376, 1967Google Scholar
  9. 9.
    Peterson ML, Herber R: Intestinal sucrase deficiency. Trans Assoc Am Physicians 80:275–283, 1967Google Scholar
  10. 10.
    Starnes CW, Welsh JD: Intestinal sucrase-isomaltase deficiency and renal calculi. N Engl J Med 202:1023–1024, 1970Google Scholar
  11. 11.
    Mainguet P, Vanderhoeden R, Loeb H, Eggermont E: Congenital maltase-sucrase and maltase-isomaltase deficiency in an adult. Digestion 8:353–359, 1973Google Scholar
  12. 12.
    Asp N-G, Berg N-O, Dahlqvist A, Gudmand-Hoyer E, Jarnum S, McNair A: Intestinal disaccharidases in Greenland Eskimos. Scand J Gastroenterol 10:513–519, 1975Google Scholar
  13. 13.
    Welsh JD: On the lactose tolerance test. Gastroenterology 51:445, 1966Google Scholar
  14. 14.
    Dahlqvist A: Method for assay of intestinal disaccharidases. Anal Biochem 7:18–25, 1964Google Scholar
  15. 15.
    Gray GM: Sucrase-isomaltase deficiency. N Engl J Med 295:903, 1976 (letter)Google Scholar
  16. 16.
    Preiser H, Menard D, Crane RK, Cerda JJ: Deletion of enzyme protein from brush border membrane in sucrase-isomaltase deficiency. Biochim Biophys Acta 363:279–282, 1974Google Scholar
  17. 17.
    Auricchio S, Rubino A, Prader A, Rey J, Jos J, Frezol J, Davidson M: Intestinal glycosidase activities in congenital malabsorption of disaccharides. J Pediatr 66:555–564, 1965Google Scholar
  18. 18.
    Jensen PE: Familial saccharase deficiency entailing intolerance of cane sugar. Acta Paediatr (Scand) 52 (suppl 140): 119, 1963Google Scholar
  19. 19.
    Iversen P: Et Tilfaelde af Kulhydratdyspepsi. Nord Med 16:2860, 1942Google Scholar
  20. 20.
    Ament ME, Perera DR, Esther LJ: Sucrase-isomaltase deficiency—a frequently misdiagnosed disease. J Pediatr 85:721–727, 1973Google Scholar
  21. 21.
    Welsh JD, Poley JR, Bhatia M, Stevenson DE: Intestinal disaccharidase activities in relation to age, race and mucosal damage. Gastroenterology 75:847–855, 1978Google Scholar
  22. 22.
    Gray GM, Conklin KA, Townley RRW: Sucrase-isomaltase deficiency. Absence of an inactive enzyme variant. N Engl J Med 294:750–753, 1976Google Scholar
  23. 23.
    Semenza G, Auricchio S, Rubino R, Prader A, Welsh JD: Lack of some intestinal maltases in a human disease transmitted by a single genetic factor. Biochim Biophys Acta 105:386–389, 1965Google Scholar
  24. 24.
    Schmitz J, Rey J, Hadorn B: Sucrase-isomaltase deficiency. N Engl J Med 295:902, 1976 (letter)Google Scholar

Copyright information

© Digestive Disease Systems, Inc 1980

Authors and Affiliations

  • Robert E. Ringrose
    • 1
    • 2
  • Hannah Preiser
    • 1
    • 2
  • Jack D. Welsh
    • 1
    • 2
  1. 1.Department of MedicineUniversity of Oklahoma Health Sciences CenterOklahoma City
  2. 2.Department of Physiology and BiophysicsCollege of Medicine and Dentistry of New Jersey, Rutgers Medical SchoolUSA

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