Overview
Combined oxidative phosphorylation defect type 29 (also written as COXPD29) is a rare inherited disorder that affects the body's ability to produce energy inside cells. It is caused by changes in the MTERF4 gene, which plays an important role in how mitochondria — the tiny power plants inside your cells — make proteins needed for energy production. When this process breaks down, cells throughout the body, especially those that need a lot of energy like brain and muscle cells, cannot work properly. This condition typically appears in early infancy or childhood and can affect multiple body systems at once. The brain, muscles, and heart are often the most severely impacted. Children with COXPD29 may show signs of developmental delay, weak muscle tone, and problems with movement and coordination. Some children also experience heart problems and feeding difficulties. There is currently no cure for COXPD29. Treatment focuses on managing symptoms, supporting development, and improving quality of life. A team of specialists is usually needed to care for children with this condition. Research into mitochondrial diseases is ongoing, and some supportive therapies — like certain vitamins and supplements — may be recommended by doctors to help support mitochondrial function.
Also known as:
Key symptoms:
Low muscle tone (floppy muscles)Developmental delay or regressionDifficulty feeding in infancyPoor growth and weight gainProblems with movement and coordinationIntellectual disabilityHeart muscle disease (cardiomyopathy)Breathing difficultiesSeizuresFatigue and low energyLiver problems
Clinical phenotype terms (22)— hover any for plain English
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 29.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined oxidative phosphorylation defect type 29 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 29.
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 29.
Community
No community posts yet. Be the first to share your experience with Combined oxidative phosphorylation defect type 29.
Start the conversation →Latest news about Combined oxidative phosphorylation defect type 29
No recent news articles for Combined oxidative phosphorylation defect type 29.
Follow this condition to be notified when news becomes available.
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.Which organs are currently affected in my child, and how will we monitor them over time?,Should my child have genetic testing, and should other family members be tested as well?,Are there any supplements or vitamins you recommend, and what is the evidence for them in this specific condition?,What signs should prompt me to go to the emergency room, and is there an emergency protocol letter I should carry?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies (physical, occupational, speech) do you recommend, and how often should they happen?,Which medications or anesthetics should be avoided because of the mitochondrial disease?
Common questions about Combined oxidative phosphorylation defect type 29
What is Combined oxidative phosphorylation defect type 29?
Combined oxidative phosphorylation defect type 29 (also written as COXPD29) is a rare inherited disorder that affects the body's ability to produce energy inside cells. It is caused by changes in the MTERF4 gene, which plays an important role in how mitochondria — the tiny power plants inside your cells — make proteins needed for energy production. When this process breaks down, cells throughout the body, especially those that need a lot of energy like brain and muscle cells, cannot work properly. This condition typically appears in early infancy or childhood and can affect multiple body syst
How is Combined oxidative phosphorylation defect type 29 inherited?
Combined oxidative phosphorylation defect type 29 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 29 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 29 is infantile. Age of onset can vary across affected individuals.