Congenital Glucose-Galactose Malabsorption: A Case Report
- PMID: 28283348
- DOI: 10.1016/j.pedhc.2017.01.005
Congenital Glucose-Galactose Malabsorption: A Case Report
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.
Keywords: Congenital glucose–galactose malabsorption; SLC5A1; intractable infantile diarrhea.
Copyright © 2017 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.
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