Chronic diarrhea due to glucoamylase deficiency

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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 Data version December 2023

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Chronic diarrhea due to glucoamylase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.