Overview
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, is an extremely rare and severe inherited metabolic disorder. It is also known as the fatal perinatal form of glycogen storage disease type IV (GSD IV) or Andersen disease. This condition is caused by a deficiency of the glycogen branching enzyme (GBE), which is essential for building normal glycogen — the body's stored form of sugar used for energy. Without this enzyme working properly, an abnormal type of glycogen (called polyglucosan) builds up in tissues throughout the body, especially in muscles and nerves. This is the most severe form of GSD IV. It presents before or at birth and affects the neuromuscular system profoundly. Babies with this condition typically show severely decreased fetal movement during pregnancy, and at birth they have profound muscle weakness (hypotonia), difficulty breathing, joint contractures (joints that are fixed in position), and often hydrops fetalis (abnormal fluid buildup in the body). The condition is unfortunately fatal, with affected infants typically not surviving beyond the newborn period. There is currently no cure or effective treatment for this form of the disease. Care is focused on comfort and supportive measures. Genetic counseling is important for affected families to understand the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Severe muscle weakness at birthVery little or no movement before birth (decreased fetal movement)Stiff or locked joints (joint contractures)Difficulty breathing or inability to breathe independentlyAbnormal fluid buildup in the baby's body (hydrops fetalis)Floppy muscle tone (severe hypotonia)Swelling of the bodyThin or underdeveloped musclesReduced or absent reflexesFailure to thriveEnlarged liverHeart problems
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, fatal perinatal 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
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
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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.Can you explain exactly what is happening in my baby's body with this condition?,What can we expect in terms of our baby's comfort and how long they may live?,What palliative care and comfort measures are available for our baby?,What is the chance this could happen again in a future pregnancy?,Is prenatal testing or preimplantation genetic diagnosis available for future pregnancies?,Are there any research studies or clinical trials related to this condition?,Can you connect us with grief counseling and family support services?
Common questions about Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
What is Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form?
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, is an extremely rare and severe inherited metabolic disorder. It is also known as the fatal perinatal form of glycogen storage disease type IV (GSD IV) or Andersen disease. This condition is caused by a deficiency of the glycogen branching enzyme (GBE), which is essential for building normal glycogen — the body's stored form of sugar used for energy. Without this enzyme working properly, an abnormal type of glycogen (called polyglucosan) builds up in tissues throughout the body, especially
How is Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form inherited?
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal 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, fatal perinatal neuromuscular form typically begin?
Typical onset of Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form is neonatal. Age of onset can vary across affected individuals.