Sucrase Isomaltase Deficiency
From Anvita Health Wiki
Contents |
Epidemiology
- frequency of 0.02 % in individuals of European descent & appears to be much higher in Greenland, Alaskan, & Canadian native people
Pathology
- intestinal disorder
- symptoms are the consequence of absent or nearly absent enzymatic activities of sucrase & isomaltase
- arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, & defective function of sucrase-isomaltase
Genetics
- autosomal recessive
- associated with defects in sucrase-isomaltase Clinical mannifestations:
- fermentative diarrhea
- abdominal pain
- cramps upon ingestion of sugar
More General Terms
Internet Database
OMIM: 222900
References
OMIM [1]
