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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine. Variants that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. These changes prevent the enzyme from breaking down sucrose and maltose. Rather than being absorbed by the small intestine, the undigested sugars move to the large intestine (colon). Here, they attract water and are consumed by normal bacteria in the colon, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Congenital sucrase-isomaltase deficiency?"},{"bodyHtml":"<p>Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, grains, and other starchy food. After ingestion of sucrose or maltose, an affected individual will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-sucrase-isomaltase-deficiency","sourceDocuments":[{"name":"Congenital sucrase-isomaltase deficiency","reviewed":"2023-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:40.032474+00:00","label":"Causes","pageSha256":"46da504a5ea5a7c3c365e9bce228bbd5bdad545837c78008f9ee25a06279ea36","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Congenital sucrase-isomaltase deficiency"},"schemaVersion":1}