Overview
Combined oxidative phosphorylation defect type 11 (COXPD11) is an extremely rare genetic disorder that affects how cells produce energy. Inside every cell, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD11, this energy-making process is severely impaired because of mutations in the RMND1 gene, which is needed for proper mitochondrial protein production. This condition typically appears in infancy or early childhood and can affect multiple organ systems that require a lot of energy, including the brain, kidneys, heart, and muscles. Common symptoms include kidney problems (such as renal tubular dysfunction), hearing loss, developmental delays, seizures, muscle weakness, and lactic acidosis (a buildup of acid in the blood). Some children also develop heart problems and feeding difficulties. There is currently no cure for COXPD11. Treatment is supportive and focuses on managing individual symptoms, such as controlling seizures, supporting kidney function, and providing nutritional support. The severity of the disease can vary, but it often leads to significant disability. A team of specialists is usually needed to provide the best possible care for affected children.
Also known as:
Key symptoms:
Kidney problems (renal tubular dysfunction)Hearing loss or deafnessDevelopmental delaySeizuresMuscle weaknessLactic acidosis (buildup of acid in the blood)Poor growth and failure to thriveFeeding difficultiesHeart problems (cardiomyopathy)Low muscle tone (floppiness)Intellectual disabilityMovement problemsVision problemsFatigue and low energy
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 11.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 11.
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 11.
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 genetic mutations found?,What organs should we monitor most closely, and how often should testing be done?,What should I do if my child becomes sick with a fever or stomach bug — is there a sick-day protocol?,Are there any supplements or vitamins that might help support mitochondrial function?,What therapies (physical, speech, occupational) would benefit my child the most right now?,Are there any clinical trials or research studies my child might be eligible for?,What is the risk for future children in our family, and should we consider genetic counseling?
Common questions about Combined oxidative phosphorylation defect type 11
What is Combined oxidative phosphorylation defect type 11?
Combined oxidative phosphorylation defect type 11 (COXPD11) is an extremely rare genetic disorder that affects how cells produce energy. Inside every cell, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD11, this energy-making process is severely impaired because of mutations in the RMND1 gene, which is needed for proper mitochondrial protein production. This condition typically appears in infancy or early childhood and can affect multiple organ systems that require a lot of energy, includi
How is Combined oxidative phosphorylation defect type 11 inherited?
Combined oxidative phosphorylation defect type 11 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 11 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 11 is infantile. Age of onset can vary across affected individuals.