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Chronic diarrhea due to glucoamylase deficiency

Disease 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.

ORPHA:103907

Classification level: Disorder
  • Synonym(s):
    • Maltase-glucoamylase deficiency
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: E74.3
  • ICD-11: 5C61.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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