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Article

Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challenge.

Scandinavian journal of gastroenterology - 1 Mar 2026

Demir Engin, Tunç Ali, Başer Burak, Mermer Serdar, Onay Hüseyin, Ürel-Demir Gizem

Abstract excerpt

PURPOSE: The sucrase-isomaltase (SI) gene encodes sucrase-isomaltase enzyme found on the intestinal brush-border that has a major function in the hydrolysis of sucrose, oligosaccharides, and starch. Mutations disrupting its function cause genetic sucrase-isomaltase deficiency (GSID). Variants leading to mild to moderate reductions in enzyme activity may mimic disorders of gut-brain interaction (DGBI), and...

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Identifiers

PMID: 41524269
DOI: 10.1080/00365521.2026.2615396

Genes

SI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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