Overview
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form, is a very rare inherited metabolic disorder. It is also known as Andersen disease (GSD type IV) — specifically the severe congenital neuromuscular variant. This condition is caused by a deficiency of the glycogen branching enzyme (GBE1), which is needed to build glycogen (the body's stored form of sugar) with a normal structure. Without enough of this enzyme, an abnormal type of glycogen called polyglucosan accumulates in muscles, nerves, and other tissues throughout the body. In the congenital neuromuscular form, symptoms are present at birth or even before birth. Affected babies typically show severe muscle weakness (hypotonia), reduced or absent movement, joint contractures (stiff joints that cannot fully straighten), and breathing difficulties. Some babies may also have a condition called hydrops fetalis, where fluid builds up abnormally in the body before birth. The heart and liver may also be affected. Unfortunately, this is the most severe form of GSD IV. There is currently no cure, and treatment is supportive, focusing on managing breathing, feeding, and comfort. The prognosis is very poor, with most affected infants not surviving beyond the first few months of life. Research into potential therapies, including gene therapy and enzyme replacement, is ongoing but no specific treatments are yet approved for this form of the disease.
Also known as:
Key symptoms:
Severe muscle weakness present at birthVery low muscle tone (floppy baby)Joint stiffness or contracturesDifficulty breathing or inability to breathe independentlyReduced or absent fetal movement during pregnancySwelling or fluid buildup before birth (hydrops fetalis)Difficulty feeding or inability to suck and swallowEnlarged liverHeart problems (cardiomyopathy)Failure to thrive or poor weight gainNeurological impairmentThin or underdeveloped muscles
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular 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.What is the expected course of this disease for my baby?,What supportive treatments are available to keep my baby comfortable?,Should we involve a palliative care team, and what does that look like?,Are there any clinical trials or experimental treatments we should know about?,What is the chance of having another child with this condition, and is prenatal testing available?,How can we coordinate care between the different specialists involved?,What support resources are available for our family during this time?
Common questions about Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
What is Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form?
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form, is a very rare inherited metabolic disorder. It is also known as Andersen disease (GSD type IV) — specifically the severe congenital neuromuscular variant. This condition is caused by a deficiency of the glycogen branching enzyme (GBE1), which is needed to build glycogen (the body's stored form of sugar) with a normal structure. Without enough of this enzyme, an abnormal type of glycogen called polyglucosan accumulates in muscles, nerves, and other tissues throughout the body. In the congenita
How is Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form inherited?
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular 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, congenital neuromuscular form typically begin?
Typical onset of Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form is neonatal. Age of onset can vary across affected individuals.