Abstract
Glucose Galactose Malabsorption is a genetic disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Normally, lactose in milk is broken down into glucose and galactose by lactase, an ectoenzyme on the brush border, and the hexoses are transported into the cell by the Na+-glucose cotransporter SGLT1. The mutations causing the defect in sugar transport have been identified in patients from 33 kindreds, and functional studies have established how these mutations cause the disease.
Publication types
-
Research Support, U.S. Gov't, P.H.S.
-
Review
MeSH terms
-
Animals
-
Biological Transport / genetics
-
Cell Membrane / metabolism*
-
Galactose / metabolism*
-
Glucose / metabolism*
-
Humans
-
Intestinal Mucosa / metabolism*
-
Malabsorption Syndromes / genetics*
-
Malabsorption Syndromes / metabolism
-
Membrane Glycoproteins / chemistry
-
Membrane Glycoproteins / genetics
-
Microvilli / genetics
-
Microvilli / metabolism
-
Models, Molecular
-
Monosaccharide Transport Proteins / chemistry
-
Monosaccharide Transport Proteins / genetics
-
Point Mutation
-
Protein Structure, Secondary
-
Sodium-Glucose Transporter 1
Substances
-
Membrane Glycoproteins
-
Monosaccharide Transport Proteins
-
SLC5A1 protein, human
-
Sodium-Glucose Transporter 1
-
Glucose
-
Galactose