Chronic diarrhea due to glucoamylase deficiency
Synonyms: Maltase-glucoamylase deficiency
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea abdominal distention and bloating. Levels of pancreatic amylase are typically normal and histopathological analysis shows normal morphology of the intestinal mucosa.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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