Overview
Metabolic myopathy due to lactate transporter defect is an extremely rare inherited muscle disease caused by a problem with how the body moves lactate (a substance produced during exercise and normal metabolism) in and out of muscle cells. Lactate is an important fuel source and byproduct of energy production. When the transporter responsible for moving lactate across cell membranes does not work properly, lactate builds up in the muscles, leading to muscle problems. People with this condition typically experience exercise intolerance, meaning they become unusually tired or develop muscle pain, cramping, and weakness during physical activity. After exercise, blood lactate levels may rise much higher than expected. Some individuals may also notice chronic fatigue and difficulty performing everyday physical tasks. The severity can vary from person to person. Because this condition is so rare, treatment options are limited and mainly focus on managing symptoms. Patients are generally advised to avoid intense physical exertion, pace their activities, and work closely with specialists in metabolic diseases and neuromuscular disorders. There is currently no cure or specific approved therapy for this condition, and management is supportive in nature.
Also known as:
Key symptoms:
Exercise intoleranceMuscle pain during or after physical activityMuscle crampsMuscle weaknessChronic fatigueElevated blood lactate levels after exerciseDifficulty with sustained physical effortMuscle stiffnessShortness of breath during exertion
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 Metabolic myopathy due to lactate transporter defect.
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Specialists
View all specialists →No specialists are currently listed for Metabolic myopathy due to lactate transporter defect.
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
No travel grants are currently matched to Metabolic myopathy due to lactate transporter defect.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 level of physical activity is safe for me or my child?,How can I recognize the early signs of muscle breakdown (rhabdomyolysis)?,Are there any dietary changes that could help manage symptoms?,Should other family members be tested for this condition?,What should I do in an emergency if severe muscle symptoms occur?,Are there any clinical trials or new treatments being studied for this condition?,How often should follow-up appointments and blood tests be scheduled?
Common questions about Metabolic myopathy due to lactate transporter defect
What is Metabolic myopathy due to lactate transporter defect?
Metabolic myopathy due to lactate transporter defect is an extremely rare inherited muscle disease caused by a problem with how the body moves lactate (a substance produced during exercise and normal metabolism) in and out of muscle cells. Lactate is an important fuel source and byproduct of energy production. When the transporter responsible for moving lactate across cell membranes does not work properly, lactate builds up in the muscles, leading to muscle problems. People with this condition typically experience exercise intolerance, meaning they become unusually tired or develop muscle pai
How is Metabolic myopathy due to lactate transporter defect inherited?
Metabolic myopathy due to lactate transporter defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.