Overview
Combined oxidative phosphorylation defect type 15 (COXPD15) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD15, this energy-making process is severely impaired because of mutations in the MTFMT gene, which is needed to properly prepare certain building blocks for proteins that work inside mitochondria. This disease typically appears in infancy or early childhood and can affect multiple organ systems, especially those with high energy demands like the brain, muscles, and heart. Common symptoms include developmental delay, intellectual disability, muscle weakness, seizures, and problems with movement and coordination. Some children may also develop Leigh syndrome, a serious brain condition that causes progressive loss of mental and movement abilities. Heart problems, including an enlarged or weakened heart muscle (cardiomyopathy), can also occur. There is currently no cure for COXPD15. Treatment focuses on managing symptoms and supporting the child's development. This may include anti-seizure medications, physical therapy, nutritional support, and cardiac monitoring. Some doctors may try mitochondrial supplements such as coenzyme Q10 or riboflavin, though their effectiveness has not been proven in clinical trials for this specific condition. Because the disease is so rare, care is best coordinated by a team of specialists experienced in mitochondrial disorders.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityMuscle weaknessSeizuresPoor muscle tone (floppiness)Difficulty with movement and coordinationEnlarged or weakened heart muscleDifficulty feedingFailure to thrive or poor growthVision problemsLeigh syndrome (progressive brain disease)Lactic acidosis (buildup of acid in the blood)Fatigue and low energyBreathing difficulties
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 Combined oxidative phosphorylation defect type 15.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 15.
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 Combined oxidative phosphorylation defect type 15.
Community
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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.How severe is my child's condition based on the specific MTFMT mutations found?,What symptoms should I watch for that would require emergency care?,Are there any supplements or vitamins that might help my child's mitochondrial function?,How often should my child have heart, brain, and developmental evaluations?,What should we do during illness to prevent a metabolic crisis?,Are there any clinical trials or research studies my child might be eligible for?,What early intervention therapies would benefit my child the most right now?
Common questions about Combined oxidative phosphorylation defect type 15
What is Combined oxidative phosphorylation defect type 15?
Combined oxidative phosphorylation defect type 15 (COXPD15) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD15, this energy-making process is severely impaired because of mutations in the MTFMT gene, which is needed to properly prepare certain building blocks for proteins that work inside mitochondria. This disease typically appears in infancy or early childhood and can affect
How is Combined oxidative phosphorylation defect type 15 inherited?
Combined oxidative phosphorylation defect type 15 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined oxidative phosphorylation defect type 15 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 15 is infantile. Age of onset can vary across affected individuals.