ICD-11 definition : 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.;
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.