title: 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.
authors.forename: Sharon
authors.initials: S
authors.lastname: Anderson
authors.forename: Soula
authors.initials: S
authors.lastname: Koniaris
authors.forename: Baozhong
authors.initials: B
authors.lastname: Xin
authors.forename: Susan Sklower
authors.initials: SS
authors.lastname: Brooks
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy* / Q000534:rehabilitation; D003968:Diarrhea, Infantile / Q000151:congenital / Q000178:diet therapy* / Q000209:etiology / Q000534:rehabilitation; D004040:Dietary Carbohydrates / Q000009:adverse effects*; D005260:Female; D005526:Food, Formulated; D005632:Fructose; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D041943:Infant Formula; D007227:Infant Nutritional Physiological Phenomena; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000150:complications / Q000151:congenital / Q000178:diet therapy* / Q000534:rehabilitation; D017384:Sequence Deletion; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics; D041942:Soy Milk
chemical_list: D004040:Dietary Carbohydrates; D005819:Genetic Markers; C495674:SLC5A1 protein, human; D051269:Sodium-Glucose Transporter 1; D005632:Fructose
keywords: Congenital glucose–galactose malabsorption; SLC5A1; intractable infantile diarrhea