Chronic diarrhea due to glucoamylase deficiency

Orpha code: 103907OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
Maltase-glucoamylase deficiency
Niedobór maltazy - glukoamylazy
ORPHA code
103907
OMIM code
-
ICD10 code
E74.3
ICD11 code
5C61.1

No additional description.

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