Living with Glycogen storage disease, type IV
An inherited condition in which abnormal glycogen builds up in the liver and muscles, with five types that differ in severity.
Understanding Glycogen storage disease, type IV
It especially affects the liver and muscles. There are five types that differ in severity, signs, and when they begin. The most severe perinatal type starts before birth, with reduced fetal movement. The progressive hepatic type is the most common. Within the first months, infants have trouble gaining weight and develop an enlarged liver. Children with this type develop liver scarring (cirrhosis).
Signs & symptoms
Symptoms vary by type. GARD lists these among the most common:
- Slow weight gain and growth
- Enlarged liver
- Reduced liver function
- Low muscle tone and muscle disease
- Delayed motor skills
- Weakened, stretched heart muscle (dilated cardiomyopathy)
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 GBE1 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
Children's Cardiomyopathy Foundation 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: Children's Cardiomyopathy Foundation
- 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 Association for 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 GBE1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency; amylopectinosis; andersen disease; andersen disease (gsd iv); andersen's disease; brancher deficiency
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease, type IV · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease, type IV.
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