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GTR Home > Conditions/Phenotypes > Sucrase-isomaltase deficiency

Sucrase-isomaltase deficiency

Synonyms
Congenital sucrose isomaltose malabsorption; Congenital sucrose-isomaltase malabsorption; Deficiency of isomaltase; Disaccharide intolerance, 1; SI deficiency; Sucrose intolerance congenital; Sucrose isomaltose enzyme deficiency; congenital sucrase-isomaltase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital sucrose-isomaltase deficiency (CSID) is an autosomal recessive disorder characterized by absence of sucrase and most of the maltase digestive activity within the sucrase-isomaltase enzyme complex, with the isomaltase activity varying from absent to normal. The large amounts of unabsorbed disaccharides create osmotic-fermatative diarrhea with symptoms such as vomiting, flatulence, and abdominal pain (summary by Sander et al., 2006). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , SI
    Summary: sucrase-isomaltase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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