Overview
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare genetic condition that affects the heart and the body's ability to produce energy. The MTO1 gene provides instructions for a protein that helps mitochondria — the tiny power plants inside our cells — work properly. When this gene is not working correctly, the mitochondria cannot efficiently produce energy, which leads to a buildup of lactic acid in the blood (lactic acidosis) and a thickening of the heart muscle known as hypertrophic cardiomyopathy. This condition typically appears in infancy or early childhood. The thickened heart muscle makes it harder for the heart to pump blood effectively, which can cause heart failure, breathing difficulties, and poor growth. Lactic acidosis can cause fatigue, rapid breathing, nausea, and muscle weakness. Some children may also experience developmental delays or neurological problems because the brain requires a lot of energy to function. There is currently no cure for this condition. Treatment focuses on managing symptoms, particularly supporting heart function and controlling lactic acid levels. Medications for heart failure, dietary modifications, and certain vitamin or cofactor supplements (such as coenzyme Q10 or riboflavin) may be tried, though their effectiveness varies from patient to patient. Close monitoring by a team of specialists is essential to manage this complex disease.
Also known as:
Key symptoms:
Thickened heart muscle (hypertrophic cardiomyopathy)High lactic acid levels in the bloodHeart failure symptoms such as shortness of breathPoor feeding in infantsFailure to thrive or poor weight gainFatigue and low energyRapid breathing or heavy breathingMuscle weaknessDevelopmental delaysEpisodes of metabolic crisis during illness or fastingBluish skin color (cyanosis) in severe casesAbnormal heart rhythmsLow muscle tone (floppiness)
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 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 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
NORD 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 severe is my child's heart involvement, and what is the expected course?,What medications or supplements should my child take, and what are the potential side effects?,What should I do if my child gets sick — is there a specific emergency protocol?,Are there any dietary changes that could help manage lactic acid levels?,Should other family members be tested for carrier status?,Are there any clinical trials or new treatments being studied for MTO1 deficiency?,When should we consider referral to a specialized mitochondrial disease center?
Common questions about Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
What is Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency?
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare genetic condition that affects the heart and the body's ability to produce energy. The MTO1 gene provides instructions for a protein that helps mitochondria — the tiny power plants inside our cells — work properly. When this gene is not working correctly, the mitochondria cannot efficiently produce energy, which leads to a buildup of lactic acid in the blood (lactic acidosis) and a thickening of the heart muscle known as hypertrophic cardiomyopathy. This condition typically appears in infancy or ea
How is Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency inherited?
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency typically begin?
Typical onset of Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is infantile. Age of onset can vary across affected individuals.