| Entry |
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| Name |
Congenital sucrase-isomaltase deficiency;
Disaccharide intolerance I
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| Description |
Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.
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| Category |
Inherited metabolic disease
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| Pathway |
| Starch and sucrose metabolism |
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| Gene |
SI; sucrase-isomaltase / oligo-1,6-glucosidase [HSA: 6476] [KO: K01203]
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| Drug |
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| Other DBs |
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| Reference |
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| Authors |
Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY |
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| Title |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. |
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| Journal |
Hum Mutat 27:119 (2006) |
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