Overview
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form, is a rare inherited metabolic disorder also known as Andersen disease or glycogen storage disease type IV (GSD IV) in its progressive liver form. This condition is caused by a deficiency of the glycogen branching enzyme (GBE), which is needed to build glycogen — the body's main way of storing sugar for energy. Without enough of this enzyme, the body produces an abnormal form of glycogen called amylopectin-like polysaccharide (polyglucosan), which accumulates in the liver and other organs. In the progressive hepatic form, the liver is the primary organ affected. Infants and young children typically develop an enlarged liver and spleen, failure to thrive, and progressive liver disease that can advance to cirrhosis (scarring of the liver) and liver failure. Symptoms usually appear in the first months of life and worsen over time. Children may also experience low muscle tone, poor growth, and general weakness. There is currently no cure for this condition. Treatment is mainly supportive and focused on managing liver disease and nutritional needs. Liver transplantation is the most significant treatment option and can be life-saving for children with progressive liver failure. After transplant, the abnormal glycogen does not accumulate in the new liver, and liver function can be restored. However, the disease may still affect other organs over time. Early diagnosis and referral to a specialized metabolic and liver center are essential for the best possible outcomes.
Also known as:
Key symptoms:
Enlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Failure to thrive and poor weight gainProgressive liver scarring (cirrhosis)Liver failureLow muscle tone (floppy baby)Poor growthAbdominal swelling from fluid buildup (ascites)Yellowing of the skin and eyes (jaundice)Easy bruising or bleedingFatigue and low energyMuscle weaknessPortal hypertension (high blood pressure in liver blood vessels)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's enzyme deficiency, and what does that mean for their outlook?,At what point would liver transplantation be recommended, and how do we prepare?,What signs of liver worsening should I watch for at home?,Are there any dietary changes that could help my child's condition?,Could this disease affect my child's heart or muscles in the future?,Is genetic testing recommended for other family members or for future pregnancies?,Are there any clinical trials or new treatments being studied for this disease?
Common questions about Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
What is Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form?
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form, is a rare inherited metabolic disorder also known as Andersen disease or glycogen storage disease type IV (GSD IV) in its progressive liver form. This condition is caused by a deficiency of the glycogen branching enzyme (GBE), which is needed to build glycogen — the body's main way of storing sugar for energy. Without enough of this enzyme, the body produces an abnormal form of glycogen called amylopectin-like polysaccharide (polyglucosan), which accumulates in the liver and other organs. In the pr
How is Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form inherited?
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form typically begin?
Typical onset of Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form is infantile. Age of onset can vary across affected individuals.