Living with Glycogen storage disease type III
Also called Cori disease: an inherited condition in which glycogen builds up in the liver and muscles, causing low blood sugar and an enlarged liver in childhood.
Understanding Glycogen storage disease type III
It mainly affects the liver and muscles. Types IIIa and IIIc affect the liver and muscles, while IIIb and IIId usually affect only the liver. From infancy, people may have low blood sugar, high blood fats, and high liver enzymes. Children usually develop an enlarged liver, which usually returns to normal size in the teen years. Muscle weakness (myopathy) may develop later in IIIa.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar in infancy
- Enlarged liver in childhood
- Muscle disease (myopathy)
- Short stature
- Full cheeks
- Mild intellectual disability
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 brain and nervous system specialists, digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in AGL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
International Association for Muscle Glycogen Storage Disease, Hypertrophic Cardiomyopathy Association and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: International Association for Muscle Glycogen Storage Disease, Hypertrophic Cardiomyopathy Association, Muscular Dystrophy Association
- 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 International Association for Muscle Glycogen Storage Disease and other patient organizations
- 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
Changes in the AGL gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: agl glycogen storage disease; amylo 1,6 glucosidase deficiency; amylo-1,6-glucosidase deficiency; cori disease; cori-forbes disease; cori's disease
Patient organizations
- International Association for Muscle Glycogen Storage DiseaseGlycogen storage disease type III · United States
- Hypertrophic Cardiomyopathy AssociationGlycogen storage disease type III · United States
- Muscular Dystrophy AssociationGlycogen storage disease type III · United States
- Association for Glycogen Storage DiseaseGlycogen storage disease type III · United States
- The Children's Fund for Glycogen Storage Disease ResearchGlycogen storage disease type III · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease type III.
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