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Related Experiment Video

Updated: May 28, 2026

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

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Published on: February 3, 2016

Sucrase-Isomaltase Deficiency in Children with Functional Gastrointestinal Disorders.

Firdevs Kavas Demirci¹, Tuğba Gürsoy Koca², Abdulkerim Elmas³

¹Department of Pediatrics, Pamukkale University Faculty of Medicine, 20160 Denizli, Türkiye.

Journal of Clinical Medicine

|May 27, 2026

Summary

Congenital sucrase-isomaltase deficiency (CSID) affects nearly 6% of children with functional gastrointestinal disorders (FGIDs). Genetic testing and targeted therapies like diet or sacrosidase can improve quality of life for these patients.

Keywords:

child disaccharidase deficiency functional gastrointestinal disorders irritable bowel syndrome quality of life sucrase-isomaltase deficiency

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Recapitulating Suckling-to-Weaning Transition In Vitro using Fetal Intestinal Organoids

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Published on: November 15, 2019

Area of Science:

Pediatric Gastroenterology
Human Genetics
Rare Diseases

Background:

Congenital sucrase-isomaltase deficiency (CSID) often presents with symptoms overlapping functional gastrointestinal disorders (FGIDs).
CSID is likely underdiagnosed in pediatric populations, necessitating further investigation into its prevalence within FGID cohorts.

Purpose of the Study:

To determine the frequency of sucrase-isomaltase (SI) gene variants in children diagnosed with FGIDs.
To explore genotype-phenotype correlations and assess the impact of treatment on quality of life in pediatric patients with SI variants.

Main Methods:

A prospective cross-sectional study involving 290 children (0-18 years) with FGIDs (Rome IV criteria).
Next-generation sequencing was used to identify SI gene variants.
Clinical data, FGID subtypes, anthropometrics, and quality of life (PedsQL 4.0) were collected; treatment included dietary sucrose restriction and/or sacrosidase therapy.

Main Results:

SI gene variants were identified in 5.9% (17/290) of children with FGIDs, with higher detection rates in those with irritable bowel syndrome-like symptoms.
No consistent genotype-phenotype correlation was observed due to heterogeneous clinical presentations.
Dietary intervention improved symptoms in compliant patients; sacrosidase therapy significantly enhanced PedsQL scores for both children and parents.

Conclusions:

Congenital sucrase-isomaltase deficiency is a relevant, though often overlooked, diagnosis in children presenting with FGIDs, especially those with IBS-like or diet-related symptoms.
Integrating genetic testing with tailored dietary and enzyme-replacement therapies offers a promising strategy for improving symptom management and quality of life in affected pediatric patients.