congenital Sucrase-isomaltase deficiency

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

Also Known As:

Sucrase-isomaltase deficiency, congenital; 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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - congenital Sucrase-isomaltase deficiency: 94
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - congenital Sucrase-isomaltase deficiency: 94
Macromolecular Substances: 97
- Multiprotein Complexes: 125
  - Multienzyme Complexes: 8
    - Sucrase-Isomaltase Complex: 6
      - congenital Sucrase-isomaltase deficiency: 94
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Hydrolases: 2166
    - Glycoside Hydrolases: 871
      - Disaccharidases: 377
        Sucrase: 312
        Sucrase-Isomaltase Complex: 6
        congenital Sucrase-isomaltase deficiency: 94
      - Oligo-1,6-Glucosidase: 127
        Sucrase-Isomaltase Complex: 6
        congenital Sucrase-isomaltase deficiency: 94
  - Multienzyme Complexes: 8
    - Sucrase-Isomaltase Complex: 6
      - congenital Sucrase-isomaltase deficiency: 94

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