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Congenital sucrase-isomaltase deficiency

Disease Export to PDF
Name:
Congenital sucrase-isomaltase deficiency
Description:
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.
ORPHAcode:
35122
Synonyms:
CSID
Congenital sucrose intolerance
Disaccharide intolerance
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
MedDRA
Analyte(s):
SI
Created:
20 Aug 2021 - 01:14
Changed:
22 Jun 2023 - 16:14