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Article

Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

PloS one - 1 Jan 2020

Chumpitazi Bruno P, Lewis Jeffery, Cooper Derick, D'Amato Mauro, Lim Joel, Gupta Sandeep, Miranda Adrian, Terry Natalie, Mehta Devendra, Scheimann Ann, O'Gorman Molly, Tipnis Neelesh, Davies Yinka, Friedlander Joel, Smith Heather, Punati Jaya, Khlevner Julie, Setty Mala, Di Lorenzo Carlo

Abstract excerpt

OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and...

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Share to Adolescent
Share to Carbohydrate Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 32433684
DOI: 10.1371/journal.pone.0231891
PMCID: PMC7239456

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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