Congenital sucrase-isomaltase deficiency

MONDO:0009114

A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.

Also known as: CSID, congenital sucrase-isomaltase deficiency, congenital sucrose intolerance, disaccharide intolerance, genetic sucrase-isomaltose malabsorption, sucrase-isomaltase deficiency, SI deficiency, congenital sucrose malabsorption

3 clinical trials for this condition and its sub-types, 2 tagged with Congenital sucrase-isomaltase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of carbohydrate transmembrane transport and absorption (162) ↑ Intestinal disaccharidase deficiency (2)

Sub-types of Congenital sucrase-isomaltase deficiency

Including sub-types (3) Tagged with Congenital sucrase-isomaltase deficiency (2)

Trials to join now! 1 Not yet finished but already full! 1

IBS study: does weak starch digestion spike gut troubles?

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This study looks at people with Irritable Bowel Syndrome (IBS) who have a reduced ability to break down starch and sugar due to low enzyme levels. Researchers want to see if these individuals have a smaller rise in blood sugar after a meal and more bowel symptoms compared to thos…

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Last updated Jun 27, 2026 12:24 UTC

Congenital sucrase-isomaltase deficiency

Where it sits in the disease tree

IBS study: does weak starch digestion spike gut troubles?