Sucrase-isomaltase deficiency, congenital [Supplementary Concept]

Autosomal recessive mutations in the SI gene that cause a deficiency of sucrase-isomaltase. This disrupts the HYDROLYSIS of dietary SUCROSE and some of the products of STARCH digestion, which causes osmotic DIARRHEA when the DISACCHARIDE is ingested, because absorption cannot occur until after hydrolysis produces the component MONOSACCHARIDES. OMIM: 222900

Date introduced: August 25, 2010

MeSH Unique ID: C538139

Heading Mapped to:

• Carbohydrate Metabolism, Inborn Errors
• Sucrase-Isomaltase Complex/deficiency

Entry Terms:

• Congenital sucrose-isomaltase malabsorption
• Sucrose-isomaltase malabsorption, congenital
• Disaccharide intolerance, 1
• Sucrose intolerance congenital
• Sucrose-Isomaltose Malabsorption, Congenital
• Disaccharide Intolerance I
• Sucrose Intolerance, Congenital
• Sucrase-Isomaltase Deficiency
• Congenital Sucrase-Isomaltase Deficiency
• Congenital Sucrose Intolerance
• Congenital Sucrose-Isomaltose Malabsorption
• Si Deficiency