Congenital sucrase-isomaltase deficiency
Synonyms: CSID | Congenital sucrose intolerance | Disaccharide intolerance
A rare genetic congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity marked reduction in isomaltase activity and moderate decrease in maltase activity and clinically manifesting with diarrhea abdominal pain and bloating failure to thrive.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Congenital sucrase-isomaltase deficiency?
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Advocacy Organizations
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.