Congenital sucrase-isomaltase deficiency

Тодорхойлолт

Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides. CSID is transmitted as an autosomal recessive trait and is caused by mutations in the brush-border membrane complex sucrase-isomaltase (SI), which is required for the breakdown of sucrose and starch into monosaccharides. The SI deficiency results in an accumulation of disaccharides in the lumen, causing osmotic diarrhoea. The prognosis for patients is good as the starch intolerance usually resolves during the first few years of life and sucrose intolerance usually improves with age.

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