Overview
Glycogen storage disease due to lactate dehydrogenase (LDH) H-subunit deficiency is an extremely rare inherited metabolic condition. It is also known as LDH-B deficiency or lactate dehydrogenase B deficiency. The disease is caused by problems in the LDHB gene, which provides instructions for making the H-subunit (also called the B-subunit) of the lactate dehydrogenase enzyme. This enzyme plays an important role in how your body converts sugar into energy, particularly in the heart and red blood cells. LDH is made up of different combinations of two subunits (H/B and M/A), and the H-subunit is especially abundant in the heart muscle. Most people with this condition appear to have no obvious symptoms or very mild ones, which is why it is often discovered incidentally through routine blood tests that show unusually low LDH levels. In some cases, individuals may experience mild fatigue or exercise intolerance, but severe complications are generally not reported. Because the M-subunit (encoded by the LDHA gene) can partially compensate for the missing H-subunit in many tissues, the clinical impact tends to be limited. There is currently no specific treatment for this condition, and management is generally supportive. The disease is typically identified through enzyme activity testing and confirmed with genetic analysis. Due to its rarity and generally benign nature, it is one of the least well-characterized glycogen storage diseases, and ongoing research continues to clarify its full clinical significance.
Also known as:
Key symptoms:
Usually no noticeable symptomsLow LDH levels found on routine blood testsPossible mild fatiguePossible mild exercise intoleranceAbnormal LDH isoenzyme pattern on lab testing
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency.
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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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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 was this diagnosis confirmed, and should my family members be tested?,Are there any symptoms I should watch for that might indicate a problem?,Could my low LDH levels affect the interpretation of future blood tests?,Do I need any regular follow-up appointments or monitoring?,Are there any activities or medications I should avoid?,Should I carry a medical alert card explaining my condition?,Is there any ongoing research or clinical trials related to this condition?
Common questions about Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
What is Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency?
Glycogen storage disease due to lactate dehydrogenase (LDH) H-subunit deficiency is an extremely rare inherited metabolic condition. It is also known as LDH-B deficiency or lactate dehydrogenase B deficiency. The disease is caused by problems in the LDHB gene, which provides instructions for making the H-subunit (also called the B-subunit) of the lactate dehydrogenase enzyme. This enzyme plays an important role in how your body converts sugar into energy, particularly in the heart and red blood cells. LDH is made up of different combinations of two subunits (H/B and M/A), and the H-subunit is
How is Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency inherited?
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.