Living with Chronic diarrhea due to glucoamylase deficiency
A rare intestinal condition where the body has trouble absorbing starch, causing diarrhea and bloating from infancy or early childhood.
Understanding Chronic diarrhea due to glucoamylase deficiency
It is caused by a lack of the enzyme glucoamylase in the small intestine. People notice chronic diarrhea, a swollen belly, and bloating in infancy or early childhood. Pancreatic amylase levels are typically normal, and the lining of the intestine looks normal under the microscope.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic diarrhea
- Belly pain
- Bloating or a swollen belly
- Indigestion
- Poor absorption of food (malabsorption)
- Nausea and vomiting
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by a lack of glucoamylase in the small intestine, which impairs absorption of starch.
Also known as: maltase glucoamylase deficiency; maltase-glucoamylase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chronic diarrhea due to glucoamylase deficiency.
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