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Abstract
Studies in congenital glucose-galactose malabsorption (GGM) have indicated an abnormality in small intestinal glucose and galactose transport but the precise site of the defect has not been defined. We have therefore investigated Na+-coupled D-glucose uptake, and Na+/H+ exchange in a patient with GGM using brush border membrane vesicles (BBMV) prepared from jejunal biopsies using a miniaturised Mg++-precipitation technique. The diagnosis was confirmed by clinical presentation, response to diet and jejunal perfusion studies, which showed markedly defective glucose and galactose absorption (p < 0.001) and normal fructose transport.
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