Conditions / Genetic
congenital sucrase-isomaltase deficiency
info · Genetic · ICD-10: E74.31
A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
Signs and symptoms
- Diarrhea
- Malabsorption
- Decreased mucosal sucrase-isomaltase activity
- Kidney stone
- Abdominal pain
Also known as: CSID; SI deficiency; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; disaccharide intolerance