Congenital sucrase-isomaltase deficiency (Q40047): Difference between revisions
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A deficiência congênita de sacarase-isomaltase é um distúrbio de intolerância a carboidratos, caracterizado pela má absorção de oligossacarídeos e dissacarídeos. Ela é transmitida como um traço autossômico recessivo e é causada por mutações no complexo de membrana da borda em escova sacarase-isomaltase, que é necessário para a quebra de sacarose e amido em monossacarídeos. A deficiência de sacarase-isomaltase resulta em um acúmulo de dissacarídeos no lúmen, causando diarreia osmótica. O prognóstico para os pacientes é bom, pois a intolerância ao amido geralmente se resolve durante os primeiros anos de vida e a intolerância à sacarose geralmente melhora com a idade. | |||
| description / en | description / en | ||
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. | |||
Revision as of 05:42, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C61.2 |
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| English | Congenital sucrase-isomaltase deficiency |
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. |
