sucrase-isomaltase deficiency

sucrase-isomaltase deficiency
a disaccharidase deficiency caused by mutations in the SI gene (locus: 3q25-q26), which encodes the sucrase-isomaltase complex of the intestinal mucosa, leading to deficient activity of the complex with resulting malabsorption of sucrose and starch dextrins; it is characterized by watery, osmotic-fermentative diarrhea, sometimes leading to dehydration and malnutrition, manifest in infancy (congenital sucrose intolerance). While sucrase activity is always absent, α-dextrinase (isomaltase) activity may be either greatly reduced or relatively normal. See also disaccharide intolerance, under intolerance.

Medical dictionary. 2011.

Look at other dictionaries:

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  • sucrase-isomaltase complex — the enzyme complex comprising sucrase and α dextrinase (isomaltase) activities, occurring in the brush border of the intestinal mucosa and hydrolyzing maltose as well as maltotriose and some other glycosidic bonds; the enzymes are… …   Medical dictionary

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  • α-dextrinase — α dex·trin·ase (dekґstrin ās) an enzyme that catalyzes the hydrolysis of both α 1,6 and α 1,4 bonds in linear and branched oligoglucosides and maltose and isomaltose. It occurs on the brush border of the intestinal mucosa,… …   Medical dictionary

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