| Literature DB >> 28283348 |
Sharon Anderson, Soula Koniaris, Baozhong Xin, Susan Sklower Brooks.
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.Entities:
Keywords: Congenital glucose–galactose malabsorption; SLC5A1; intractable infantile diarrhea
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Year: 2017 PMID： 28283348 DOI： 10.1016/j.pedhc.2017.01.005
Source DB: PubMed Journal: J Pediatr Health Care ISSN： 0891-5245 Impact factor: 1.812