Overview
Glycogen storage disease due to glycogen branching enzyme deficiency, non-progressive hepatic form, is a rare inherited metabolic condition that affects how the body stores and uses glycogen (a form of sugar stored in the liver and muscles). It is caused by a partial deficiency of the glycogen branching enzyme (GBE), which is needed to build glycogen with its normal branched structure. Without enough of this enzyme, an abnormal form of glycogen (called polyglucosan) builds up mainly in the liver. Unlike the more severe classic form of glycogen branching enzyme deficiency (also known as Andersen disease or GSD type IV), this non-progressive hepatic form has a much milder course. Children with this form typically present with an enlarged liver (hepatomegaly) and mildly abnormal liver function tests during infancy or early childhood. Importantly, the liver disease does not worsen over time and may even improve as the child grows. There is usually no progression to liver cirrhosis or liver failure, which distinguishes it from the classic severe form. Treatment is mainly supportive and involves regular monitoring of liver function and growth. No specific cure exists, but the overall outlook is generally favorable. Children with this form can often lead relatively normal lives. The condition is also sometimes referred to as GSD IV, non-progressive hepatic form, or non-progressive hepatic glycogenosis due to branching enzyme deficiency.
Also known as:
Key symptoms:
Enlarged liver (hepatomegaly)Mildly abnormal liver blood testsSlightly elevated liver enzymesMild growth delays in some childrenLow muscle tone in some casesMild fatigue or low energy in some childrenSlightly low blood sugar in some cases
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, non 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
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How often should my child have liver function tests and check-ups?,Are there any dietary changes or meal schedules we should follow?,How can we tell the difference between this mild form and the more severe classic form?,What signs or symptoms should prompt us to seek urgent medical attention?,Should other family members or future children be tested for this condition?,Are there any activities or medications my child should avoid?,Is there any ongoing research or clinical trials for this condition?
Common questions about Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
What is Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form?
Glycogen storage disease due to glycogen branching enzyme deficiency, non-progressive hepatic form, is a rare inherited metabolic condition that affects how the body stores and uses glycogen (a form of sugar stored in the liver and muscles). It is caused by a partial deficiency of the glycogen branching enzyme (GBE), which is needed to build glycogen with its normal branched structure. Without enough of this enzyme, an abnormal form of glycogen (called polyglucosan) builds up mainly in the liver. Unlike the more severe classic form of glycogen branching enzyme deficiency (also known as Anders
How is Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form inherited?
Glycogen storage disease due to glycogen branching enzyme deficiency, non 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, non progressive hepatic form typically begin?
Typical onset of Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form is infantile. Age of onset can vary across affected individuals.