[Diagnostic procedure in congenital saccharase-deficiency (author's transl)].
The diagnostic procedure is described in a 20 months old infant suffering from hereditary saccharase-deficiency. As a simple and adequate method the kinetic analysis of the oral disaccharide-tolerance-test can be used. The comparison of the areas under the glucose-concentration-curves in blood after the oral monosaccharide (glucose and fructose) and disaccharide (saccharose)-load, can be used as a measure for activity of saccharase in the intestinal mucosa.
D001786:Blood Glucose / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D005260:Female; D005632:Fructose / Q000032:analysis; D005947:Glucose / Q000032:analysis; D006801:Humans; D007223:Infant; D008722:Methods; D013393:Sucrase / Q000172:deficiency*; D013395:Sucrose / Q000032:analysis
D001786:Blood Glucose; D005632:Fructose; D013395:Sucrose; D013393:Sucrase; D005947:Glucose
Diagnostisches Vorgehen bei angeborenem Saccharase-Mangel.