Print friendly version
Congenital sucrase-isomaltase deficiency
Other Names for this Disease
- Congenital sucrose-isomaltase malabsorption
- Disaccharide intolerance, 1
- SI deficiency
- Sucrase-isomaltase deficiency, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
- Congenital sucrase-isomaltase deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency. Accessed May 17, 2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Congenital sucrase-isomaltase deficiency. We will answer your question and update these pages with new resources and information.
On this page
- Genetics Home Reference (GHR) contains information on Congenital sucrase-isomaltase deficiency. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital sucrase-isomaltase deficiency. Click on the link to go to OMIM and review these resources.