|Classification and external resources|
Sucrose intolerance, also called congenital sucrase-isomaltase deficiency (CSID) or sucrase-isomaltase deficiency, is the condition in which sucrase, an enzyme needed for proper metabolism of sucrose (sugar), is not produced in the small intestine.
Sucrose (also termed saccharose) is a disaccharide and is a two-sugar chain composed of glucose and fructose which are bonded together. A more familiar name is table, beet, or cane sugar. In most cases, sucrose intolerance is an autosomal recessive, genetic, metabolic disease, and involves deficiency in the enzyme sucrase (invertase), which breaks apart the glucose and fructose molecules. Monosaccharides, or single sugar units, are absorbed directly into the blood. When disaccharides are consumed, they must be broken down into monosaccharides by enzymes in the intestines before they can be absorbed. Sucrose can sometimes be found in the stool as an indication of an inability to digest and absorb sucrose in the body.
A deficiency of sucrase may result in malabsorption of sugar, which can lead to potentially serious symptoms. It is important for those with sucrose intolerance to minimize sucrose consumption as much as possible. Dietary supplements can be taken as a substitute for the enzyme missing or to introduce healthy bacteria into the immune system.
Sucrose intolerance can be caused by genetic mutations in which both parents must contain this gene for the child to carry the disease. Sucrose intolerance can also be caused by irritable bowel syndrome, aging, or small intestine disease. There are specific tests used to determine sucrose intolerance. The most common tests are the sucrose breath test, genetic analysis or enzyme activity determination, which takes place in the small intestine.
Signs and symptoms
- Abdominal cramps and bloating
- Diarrhea and constipation
- Hypoglycemia and headaches
- Poor weight gain and growth
- Upper respiratory tract and viral diseases
- Anxiety and heart palpitations
- Excess gas production
- Sander P, Alfalah M, Keiser M, et al. (January 2006). "Novel mutations in the human sucrase-isomaltase (SI) gene that cause congenital carbohydrate malabsorption". Hum. Mutat. 27 (1): 119. doi:10.1002/humu.9392. PMID 16329100.
- Baudon JJ, Veinberg F, Thioulouse E, Morgant G, Aymard P, Charritat JL (April 1996). "Sucrase-isomaltase deficiency: changing pattern over two decades". J. Pediatr. Gastroenterol. Nutr. 22 (3): 284–8. doi:10.1097/00005176-199604000-00010. PMID 8708882.
- Meier RJ, Draper H, Milan F (January 1991). "Pedigree analysis of sucrose intolerance among Native Alaskans". Arctic Med Res. 50 (1): 8–12. PMID 2021397.
- http://www.orphan-europe.com/sucrase_mangel_gb.html (broken link)