Overview
Glycogen storage disease due to lactate dehydrogenase (LDH) M-subunit deficiency, also known as GSD type XI or LDH-A deficiency, is a very rare inherited metabolic condition. It is caused by a problem with the LDHA gene, which provides instructions for making the M (muscle) subunit of the lactate dehydrogenase enzyme. This enzyme plays a key role in converting sugar into energy, especially during intense physical activity when muscles need energy quickly without oxygen (anaerobic metabolism). People with this condition typically experience exercise intolerance, meaning they get unusually tired or develop muscle pain and stiffness during vigorous physical activity. After intense exercise, affected individuals may develop a condition called exertional rhabdomyolysis, where muscle tissue breaks down and releases its contents into the blood. This can cause dark-colored urine (myoglobinuria) and, in severe cases, may lead to kidney problems. Some people also develop skin rashes or lesions. Symptoms usually become noticeable during childhood or adolescence when physical demands increase. There is currently no cure for this condition. Treatment focuses on managing symptoms and preventing complications. This mainly involves avoiding strenuous exercise and staying well-hydrated. With appropriate lifestyle modifications, most affected individuals can lead relatively normal lives. Early diagnosis is important so that patients and families can take steps to prevent dangerous episodes of muscle breakdown.
Also known as:
Key symptoms:
Exercise intoleranceMuscle pain and cramping during intense activityMuscle stiffness after exerciseDark-colored urine after vigorous exercise (myoglobinuria)Muscle breakdown (rhabdomyolysis) triggered by exertionUnusual fatigue during physical activitySkin rashes or skin lesionsElevated creatine kinase levels in blood after exerciseLow or absent LDH enzyme activity in blood testsKidney problems following severe muscle breakdown episodes
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Glycogen storage disease due to lactate dehydrogenase M-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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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 types and levels of physical activity are safe for me or my child?,How can I recognize the early signs of rhabdomyolysis, and what should I do if it happens?,Should other family members be tested for this condition?,Are there any dietary changes or supplements that could help?,How often should blood work and kidney function be monitored?,Can you provide a letter for school or work explaining activity restrictions?,Are there any clinical trials or new research for this condition?
Common questions about Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
What is Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency?
Glycogen storage disease due to lactate dehydrogenase (LDH) M-subunit deficiency, also known as GSD type XI or LDH-A deficiency, is a very rare inherited metabolic condition. It is caused by a problem with the LDHA gene, which provides instructions for making the M (muscle) subunit of the lactate dehydrogenase enzyme. This enzyme plays a key role in converting sugar into energy, especially during intense physical activity when muscles need energy quickly without oxygen (anaerobic metabolism). People with this condition typically experience exercise intolerance, meaning they get unusually tire
How is Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency inherited?
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 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 lactate dehydrogenase M-subunit deficiency typically begin?
Typical onset of Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is childhood. Age of onset can vary across affected individuals.