Article
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
The Journal of clinical investigation - 1 Jul 2000
Jacob R, Zimmer K P, Schmitz J, Naim H Y
Abstract excerpt
Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive human intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase, the components of the intestinal integral membrane glycoprotein sucrase-isomaltase (SI)....
Topics
- Biological Transport
- Biopsy
- Carbohydrate Metabolism, Inborn Errors
- Cell Compartmentation
- Child, Preschool
- Golgi Apparatus
- Humans
- Intestine, Small
- Membrane Proteins
- Models, Molecular
- Phenotype
- Point Mutation
- Protein Precursors
- Protein Processing, Post-Translational
- Sucrase-Isomaltase Complex