chronic diarrhea due to glucoamylase deficiency

ORPHA: 103907

Overview

This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with chronic diarrhea due to glucoamylase deficiency, sourced from HPO and Orphanet clinical annotations.

Chronic diarrheaAbdominal distentionAbnormal circulating enzyme concentration or activityMalabsorptionAbdominal painAbnormal small intestinal mucosa morphologyDecreased small intestinal mucosa lactase levelDyspepsiaVomitingNausea

Classification & Codes

Orphanet Code

ORPHA:103907
chronic diarrhea due to glucoamylase deficiency
OrphanetORPHA:103907
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO