MeSH Browser

MeSH Supplementary: Sucrase-isomaltase deficiency, congenital
Unique ID: C538139
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538139
Entry Term(s): Congenital Sucrase-Isomaltase Deficiency; Congenital Sucrose Intolerance; Congenital Sucrose-Isomaltose Malabsorption; Congenital sucrose-isomaltase malabsorption; Disaccharide Intolerance I; Disaccharide intolerance, 1; Si Deficiency; Sucrase-Isomaltase Deficiency; Sucrose Intolerance, Congenital; Sucrose intolerance congenital; Sucrose-Isomaltose Malabsorption, Congenital; Sucrose-isomaltase malabsorption, congenital
Heading Mapped to: *Carbohydrate Metabolism, Inborn Errors; Sucrase-Isomaltase Complex / deficiency
Frequency: 39
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Sucrase-isomaltase deficiency, congenital MeSH Supplementary Concept Data 2024