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...

Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in SLC5A1 encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital four unrelated, consanguineous Turkish families. Early recognition timely management eliminating glucose galactose diet are fundamental for t...

Jejunal brush border glucose transport was studied in a patient with glucose-galactose malabsorption and in controls, using jejunal brush border membrane vesicles (BBMV) prepared from conventional jejunal biopsies. Whereas BBMV from controls showed a seven-fold enhancement of D-glucose uptake in the presence of an inwardly directed sodium gradient compared with its absence, no such enhancement ...

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. This rare genetically determined syndrome is at fust sight difficult to correlate with any hypothesis that there is more than one mechanism for glucose transfer, but several explanations are possible. First, in subjects with this condition the absorption of galactose is undetectable but small amounts of glucose are still absorbed (Meeuwisse & Melin, 1969). Secon...