Abstract
1. In 3 children with congenital lactose malabsorption and 2 adults with specific hypolactasia a reduction of the glycoprotein band corresponding to brush border lactase was found. The protein band was reduced in approximately the same proportion as the activity. In one child with congenital lactose malabsorption no band was detected on the gel. 2. In one patient with sucrose-isomaltose malabsorption an abnormal glycoprotein band together with a complete deficiency of the normal sucrase-isomaltase band was found. In addition this patient had a high residual isomaltase activity which migrated on the gel in the position of maltase-glucamylase. The finding of an abnormal glycoprotein band differentiates this patient from those described by Schmitz et al. and by Preiser et al. 3. Enterokinase deficiency (n=2): Two more cases were investigated and no visible alteration of the band corresponding to enterokinase activity was found. This confirms an earlier observation by Schmitz et al. Three different mechanisms must be postulated to be responsible for the reduced activity in 1, 2 and 3. In sucrase-isomaltase deficiency differencies in the mechanism leading to low enzynatic activity may exist-from one patient to the other.
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Freiburghaus, A., Hadorn, B., Schmitz, J. et al. 151: Composition of brush border membranes in several congenital intestinal enzyme deficiencies investigated by use of SDS-polyacrylamide-gel-electrophoresis. Pediatr Res 10, 895 (1976). https://doi.org/10.1203/00006450-197610000-00142
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DOI: https://doi.org/10.1203/00006450-197610000-00142
