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

More general terms

• enzyme deficiency
• intestinal disease

Database

• OMIM: https://mirror.omim.org/entry/222900