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sucrase-isomaltase deficiency (disaccharide intolerance 1)
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
General
enzyme deficiency
intestinal disease
Database Correlations
OMIM 222900
References
OMIM :accession 222900