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Congenital sucrase-isomaltase deficiency
Other Names for this Disease
- Congenital sucrose-isomaltase malabsorption
- Disaccharide intolerance, 1
- SI deficiency
- Sucrase-isomaltase deficiency, congenital
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.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
Last updated: 5/17/2011
- Congenital sucrase-isomaltase deficiency. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency. Accessed 5/17/2011.
- Genetics Home Reference (GHR) contains information on Congenital sucrase-isomaltase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital sucrase-isomaltase deficiency. Click on the link to view a sample search on this topic.