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Deficiency of sucrose-isomaltase
Last reviewed: 23.04.2024
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Three phenotypes of congenital enzyme deficiency are described, caused by mutations of the gene controlling the synthesis of the enzyme complex. Published data on the localization of this gene in chromosome 3. Pathogenetic changes are similar to lactase deficiency, with the difference that sucrose and isomaltosis are not prebiotics, disruption of their cleavage leads to the development of intestinal dysbiosis. The disease manifests in the first month of life only with the artificial feeding of products containing starch, dextrins (maltodextrin), sucrose or when dopaivaniye the child with the addition of sugar. Usually manifestation of the disease occurs after the introduction of complementary foods.
ICD-10 code
E74.3. Other disorders of carbohydrate absorption in the intestine.
Diagnostics
Diagnosis is based on increasing the starch content in a coprological study, increasing the concentration of carbohydrates in the stool. The "gold standard" of diagnosis, as in lactase deficiency, is considered to be the determination of enzyme activity in the biopsy specimen of the small intestine mucosa. This method allows differentiating different types of disaccharidase deficiency among themselves.
Treatment
Treatment consists in elimination diet with the exception of sucrose, dextrin, starch, edible sugar.
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