Congenital sucrase-isomaltase deficiency
ORPHA:35122· ICD-10 E74.3
Definition
A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy