Congenital sucrase-isomaltase deficiency

Orpha code: 35122OMIM code: 222900

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.

Disease data
Classification

Disease

Synonyms
CSID
CSID
Niedolerancja disacharydów
Wrodzona nietolerancja sacharozy
Wrodzone złe wchłanianie sacharazy-izomaltazy
Congenital sucrose intolerance
Disaccharide intolerance
ORPHA code
35122
OMIM code
222900
ICD10 code
E74.3
ICD11 code
5C61.2

No additional description.

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