Congenital Glucose-Galactose Malabsorption: A Case Report

J Pediatr Health Care. 2017 Jul-Aug;31(4):506-510. doi: 10.1016/j.pedhc.2017.01.005. Epub 2017 Mar 7.

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.

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / complications
  • Carbohydrate Metabolism, Inborn Errors / diet therapy*
  • Carbohydrate Metabolism, Inborn Errors / rehabilitation
  • Diarrhea, Infantile / congenital
  • Diarrhea, Infantile / diet therapy*
  • Diarrhea, Infantile / etiology
  • Diarrhea, Infantile / rehabilitation
  • Dietary Carbohydrates / adverse effects*
  • Female
  • Food, Formulated
  • Fructose
  • Genetic Counseling
  • Genetic Markers
  • Humans
  • Infant Formula*
  • Infant Nutritional Physiological Phenomena
  • Infant, Newborn
  • Malabsorption Syndromes / complications
  • Malabsorption Syndromes / congenital
  • Malabsorption Syndromes / diet therapy*
  • Malabsorption Syndromes / rehabilitation
  • Sequence Deletion
  • Sodium-Glucose Transporter 1 / genetics
  • Soy Milk

Substances

  • Dietary Carbohydrates
  • Genetic Markers
  • SLC5A1 protein, human
  • Sodium-Glucose Transporter 1
  • Fructose

Supplementary concepts

  • Glucose-Galactose Malabsorption