Living with Glycogen storage disease, type VI
Also called Hers disease: an inherited condition in which the liver can't break down glycogen, causing an enlarged liver and low blood sugar when fasting.
Understanding Glycogen storage disease, type VI
Signs usually begin in infancy to early childhood. The first sign is usually an enlarged liver. During long periods without food, people may have low blood sugar or high ketones in the blood. Children tend to grow slower than their peers but often reach normal adult height. Symptoms tend to improve with age, and most adults have no related health problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Slower growth
- Delayed puberty
- Low blood sugar when fasting
- Mild delays in motor skills
- Thin or weak bones (osteopenia or osteoporosis)
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.
- 3Consider genetic testing
Changes in PYGL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 Association for Glycogen Storage Disease
- 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 PYGL gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease caused by mutation in pygl; glycogen storage disease due to liver glycogen phosphorylase deficiency; glycogen storage disease type 6; glycogen storage disease type 6, due to phosphorylation; glycogen storage disease type vi; glycogen storage disease vi
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease, type VI · United States
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Perspectives from people navigating life with Glycogen storage disease, type VI.
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