Overview
Combined oxidative phosphorylation defect type 21 (also written as COXPD21) is a rare inherited disease that affects the way cells produce energy. Every cell in the body has tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD21, a change (mutation) in the TARS2 gene disrupts this energy-making process, meaning cells — especially those in the brain, muscles, and heart — do not get enough energy to work properly. This condition typically appears in infancy or early childhood and can cause a wide range of serious problems. The most commonly reported symptoms include muscle weakness, poor muscle tone (called hypotonia), developmental delays, intellectual disability, and problems with movement and coordination. Some children also develop heart problems and have difficulty feeding. Because the brain and muscles need a lot of energy, they are usually the most severely affected. There is currently no cure for COXPD21. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This may include physical therapy, occupational therapy, nutritional support, and medications to manage specific complications. A team of specialists is usually needed to care for someone with this condition.
Also known as:
Key symptoms:
Low muscle tone (floppy muscles, also called hypotonia)Muscle weaknessDevelopmental delays (sitting, walking, talking later than expected)Intellectual disabilityProblems with movement and coordination (ataxia)Feeding difficulties in infancyHeart muscle disease (cardiomyopathy)Failure to thrive or poor weight gainSeizuresLactic acid buildup in the blood (lactic acidosis), which can cause rapid breathing and fatigueBrain abnormalities seen on MRI scansReduced ability to exercise or tolerate physical activity
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 21.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 21.
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 21.
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.What specific changes were found in my child's TARS2 gene, and what do they mean for their health?,Which organs are most affected in my child's case, and how will we monitor them over time?,Are there any supplements or vitamins that might help, and are they safe for my child?,What signs should prompt me to take my child to the emergency room?,What therapies (physical, occupational, speech) does my child need, and how often?,Are there any clinical trials or research studies we should consider?,What support services or patient organizations are available for families dealing with mitochondrial diseases?
Common questions about Combined oxidative phosphorylation defect type 21
What is Combined oxidative phosphorylation defect type 21?
Combined oxidative phosphorylation defect type 21 (also written as COXPD21) is a rare inherited disease that affects the way cells produce energy. Every cell in the body has tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD21, a change (mutation) in the TARS2 gene disrupts this energy-making process, meaning cells — especially those in the brain, muscles, and heart — do not get enough energy to work properly. This condition typically appears in infancy or early childhood and can cause
How is Combined oxidative phosphorylation defect type 21 inherited?
Combined oxidative phosphorylation defect type 21 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 21 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 21 is infantile. Age of onset can vary across affected individuals.