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Don’t fight Congenital sucrase-isomaltase deficiency alone.
Find your community on the free RareGuru App.Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.
Source: GARD Last updated on 05-01-20
Affected infants usually develop symptoms soon after they first ingest sucrose, which is found in modified milk formulas, fruits, or starches. Symptoms may include explosive, watery diarrhea resulting in abnormally low levels of body fluids (dehydration), abdominal swelling (distension), and/or abdominal discomfort. In addition, some affected infants may experience malnutrition, resulting from malabsorption of essential nutrients, and/or failure to thrive, resulting from nutritional deficiencies. In some cases, individuals may exhibit irritability; colic; abrasion and/or irritation (excoriation) of the skin on the buttocks as a result of prolonged diarrhea episodes; and/or vomiting.
Symptoms of this disorder vary among affected individuals, but are usually more severe in infants and young children than in adults. Symptoms exhibited in infants and young children are usually more pronounced than those of the affected adults because the diet of younger individuals often includes a higher carbohydrate intake. In addition, the time it takes for intestinal digestion is less in infants or young children.
Last updated on 05-01-20
CSID can be diagnosed by taking a small sample of tissue (biopsy) from the small intestine for a specific test known as a disaccharidase assay. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of an affected individual after sucrose ingestion. Genetic testing may be indicated in some cases.
Last updated on 05-01-20
CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrose from the diet. Sacrosidase is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.
Last updated on 05-01-20
The CSID Patient Community Support Yahoo Group is a community for patients and caregivers living with congenital sucrase isomaltase deficiency and for their families and friends.
Last updated on 04-27-20
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