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...

We consider the function ensembles emerging from the construction of Goldreich, Goldwasser and Micali (GGM), when applied to an arbitrary pseudoramdon generator. We show that, in general, such functions fail to yield correlation intractable ensembles. Speciically, it may happen that, given a description of such a function, one can easily nd an input that is mapped to zero under this function.

To clarify the physiological role of Na(+)-D-glucose cotransporter SGLT1 in small intestine and kidney, Sglt1(-/-) mice were generated and characterized phenotypically. After gavage of d-glucose, small intestinal glucose absorption across the brush-border membrane (BBM) via SGLT1 and GLUT2 were analyzed. Glucose-induced secretion of insulinotropic hormone (GIP) and glucagon-like peptide 1 (GLP-...

Glucose enters eukaryotic cells via two types of membrane-associated carrier proteins, the Na(+)/glucose cotransporters (SGLT) and the facilitative glucose transporters (GLUT). The SGLT family consists of six members. Among them, the SGLT1 and SGLT2 proteins, encoded by the solute carrier genes SLC5A1 and SLC5A2, respectively, are believed to be the most important ones and have been extensively...

The pH of the stool and the amount of reducing substances present were observed in 51 normal neonates aged 5 to 8 days. A stool pH of 5 or less was found in 6, 4 of whom were exclusively breast fed. Reducing substances, 0-5% or more, were found in the stools of 16. Stool chromatography in 13 showed lactose, glucose, galactose, or a variable combination of these sugars--that is, a pattern consis...

In the past 10 years, several monogenetic abnormalities have been identified in families with congenital intestinal transport defects. Wright and colleagues 2 described the first, which concerns congenital glucose and galactose malabsorption. Subsequently, altered genes were identified in partial or total loss of nutrient absorption, including cystinuria, lysinuric protein intolerance, Menkes’ ...

In the past 10 years, several monogenetic abnormalities have been identified in families with congenital intestinal transport defects. Wright and colleagues 2 described the first, which concerns congenital glucose and galactose malabsorption. Subsequently, altered genes were identified in partial or total loss of nutrient absorption, including cystinuria, lysinuric protein intolerance, Menkes’ ...

We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as t...