SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

Congenital glucose galactose malabsorption.

Introduction Congenital glucose galactose malabsorption (CGGM) is a rare autosomal recessive disorder, which presents as a protracted diarrhoea in early neonatal life. It is due to a defect in sodium coupled transport of glucose and galac­ tose in the enterocyte (1). Diarrhoea in CGGM is osmotic, caused by accumulation of unabsorbed glucose and ga­ lactose in the intestine (2), which results in...

Congenital glucose-galactose malabsorption in Arab children.

Eight children with chronic diarrhea from glucose-galactose malabsorption from eight different families are presented. Six children are Saudi Arabs and two are of the other Arab nationalities. The mean age of the children at the time of presentation was 10.6 months. They were first seen for chronic watery diarrhea, present since birth, and failure to thrive. Laboratory investigations, including...

D28G mutation in congenital glucose-galactose malabsorption.

BACKGROUND Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, and early death. METHODS In this study, we analyzed D28G mutation in 16 family members of a patient with typical presentation of congenital glucose-galactose malabsorption with polymerase ...

Congenital Glucose-Galactose Malabsorption: A Case Report.

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 ep...

Glucose-galactose malabsorption.