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Updated: Mar 6, 2026

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Congenital Glucose-Galactose Malabsorption: A Case Report
Insights
Congenital glucose-galactose malabsorption (CGGM) is a rare genetic disorder causing severe infantile diarrhea. This case highlights a specific SLC5A1 gene variant linked to the condition, emphasizing its importance in diagnosing persistent infant diarrhea.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Congenital glucose-galactose malabsorption (CGGM) is a rare, life-threatening genetic disorder.
- It presents as intractable infantile diarrhea and dehydration unresponsive to standard treatments.
- CGGM requires consideration in the differential diagnosis of severe infant diarrhea.
Abstract:
Congenital glucose-galactose malabsorption (CGGM) is a rare cause of intractable infantile diarrhea, with only a few hundred cases recognized worldwide. This life-threatening disorder must be considered in the differential diagnosis of an infant who presents with diarrhea and dehydration that fails to respond to standard therapy. The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c.187C>T (p.R63X) is described.
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