Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

Disaccharidase Deficiency

  • Arzu EnsariEmail author
Reference work entry


Lactase, sucrose, and maltase deficiencies


The deficiency of disaccharidases is defined as the absence of the enzymes which are located in the brush border of the small intestinal mucosa and that break down dietary carbohydrates into simple sugars so that the intestine can absorb the nutrients. The major dietary disaccharides are lactose, maltose, and sucrose. These are broken down by lactase, maltase, and the sucrase-isomaltase complex in the duodenum. A deficiency of these enzymes in the duodenum results in a range of gastrointestinal symptoms including diarrhea, abdominal pain, and bloating. Disaccharidase deficiency may be congenital or acquired (Table 1). With the exception of adult-onset lactase deficiency, hereditary disorders are rare and present at birth. They usually only affect one disaccharide and are irreversible. They include congenital sucrase-isomaltase deficiency, an autosomal-recessive disease caused by a mutation in the SI gene, glucose-galactose...
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References and Further Reading

  1. Mones, R. L., Yankah, A., Duelfer, D., Bustami, R., & Mercer, G. (2011). Disaccharidase deficiency in pediatric patients with celiac disease and intact villi. Scandinavian Journal of Gastroenterology, 46(12), 1429–1434.CrossRefGoogle Scholar
  2. Murray, I. A., Smith, J. A., Coupland, K., Ansell, I. D., & Long, R. G. (2001). Intestinal disaccharidase deficiency without villous atrophy may represent early celiac disease. Scandinavian Journal of Gastroenterology, 36(2), 163–168.CrossRefGoogle Scholar
  3. Nichols, B. L., Avery, S. E., Karnsakul, W., Jahoor, F., Sen, P., Swallow, D. M., Luginbuehl, U., Hahn, D., & Sterchi, E. E. (2002). Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. Journal of Pediatrics Gastroenterology and Nutrition, 35(4), 573–579.CrossRefGoogle Scholar
  4. Nichols, B. L., Jr., Adams, B., Roach, C. M., Ma, C. X., & Baker, S. S. (2012). Frequency of sucrase deficiency in mucosal biopsies. Journal of Pediatrics Gastroenterology and Nutrition, 55(Suppl 2), S28–S30.CrossRefGoogle Scholar
  5. Volonaki, E., Sebire, N. J., Borrelli, O., Lindley, K. J., Elawad, M., Thapar, N., & Shah, N. (2012). Gastrointestinal endoscopy and mucosal biopsy in the first year of life: Indications and outcome. Journal of Pediatrics Gastroenterology and Nutrition, 55(1), 62–65.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Department of PathologyAnkara University Medical SchoolSihhiye, AnkaraTurkey