D28G mutation in congenital glucose-galactose malabsorption.

A Case Report of Glucose-Galactose Malabsorption in Iranian Child

Introduction Glucose-Galactose Malabsorption (GGM) is an autosomal recessive and rare disorder of intestinal transport of glucose and sodium-glucose cotransporter type (SGLT1). Case Report Our patient is a 32-day-old boy who was examined for severe diarrhea and acidosis and was treated with GGMdiagnosis. A number of laboratory tests were performed on this patient as well as positive test for r...

Congental Glucose- Galactose Malabsorption a Rare Cause of Diarrhea in Infancy Period: Report of Two Cases

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

BACKGROUND Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe. CASE PRESENTATION After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with wa...

Glucose-galactose Malabsorbtion Syndrome Presenting as Congenital Diarrhea

We describe the clinical history, diagnostic evaluation, and management of an infant who had congenital Glucose Galactose Malabsorption (GGM), a rare disorder thought to be inherited as an autosomol recessive trait. This infant experienced persistant diarrhea and hypernatemic dehydration during the first months of life and then renal stone on three months follow-up. Diagnosis is based on oral g...

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...