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Congenital sucrase-isomaltase deficiency

Disease 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.

ORPHA:35122

Classification level: Disorder
  • Synonym(s):
    • CSID
    • Congenital sucrose intolerance
    • Disaccharide intolerance
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Adolescent, Adult
  • ICD-10: E74.3
  • OMIM: 222900
  • UMLS: C1283620
  • MeSH: C538139
  • GARD: 6183  7710
  • MedDRA: 10066387
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