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5C61.2 Congenital sucrase-isomaltase deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Congenital sucrase-isomaltase deficiency
• Congenital sucrose-isomaltose malabsorption
• Disaccharidase deficiency
• Invertase deficiency
• Sucrase-alpha-dextrinase deficiency
• Congenital sucrose intolerance
• Disaccharide intolerance type I
• CSID - [Congenital sucrase-isomaltase deficiency]
• sucrose intolerance of newborn
• sucrose intolerance
• sucrase deficiency
• disaccharide malabsorption
• intestinal disaccharidase deficiency

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