Chronic diarrhea due to glucoamylase deficiency

Orpha code: 103907OMIM code:

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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