Overview
Combined oxidative phosphorylation defect type 25 (COXPD25) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, there are tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD25, this energy-making process is disrupted because of a problem with a gene called TARS2, which is needed to help mitochondria build the proteins they require to function properly. This disease typically appears in infancy or early childhood and can affect multiple organ systems, especially the brain and muscles, which have the highest energy demands. Children with this condition may experience developmental delays, weak muscle tone (hypotonia), seizures, and problems with movement. Some children may also develop a condition called lactic acidosis, where too much lactic acid builds up in the blood because the body's energy production is not working correctly. Because COXPD25 is so rare, there is currently no cure or specific treatment. Management focuses on relieving symptoms and supporting the child's development. This may include physical therapy, seizure medications, and nutritional support. A team of specialists, including metabolic doctors and neurologists, typically works together to provide the best possible care. Research into mitochondrial diseases is ongoing, and families are encouraged to connect with rare disease organizations for support and information about emerging therapies.
Also known as:
Key symptoms:
Weak muscle tone (floppiness)Developmental delaysSeizuresDifficulty with movement and coordinationLactic acid buildup in the bloodFeeding difficultiesFailure to thrive or poor growthIntellectual disabilityAbnormal brain MRI findingsFatigue and low energyBreathing difficultiesRegression of previously learned skills
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 25.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 25.
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 25.
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 form of COXPD25 based on the genetic findings?,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?,What therapies (physical, occupational, speech) should we start, and how often?,Is there a sick-day protocol we should follow to prevent metabolic crises?,Are there any clinical trials or research studies my child might be eligible for?,Should other family members be tested for carrier status?
Common questions about Combined oxidative phosphorylation defect type 25
What is Combined oxidative phosphorylation defect type 25?
Combined oxidative phosphorylation defect type 25 (COXPD25) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, there are tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD25, this energy-making process is disrupted because of a problem with a gene called TARS2, which is needed to help mitochondria build the proteins they require to function properly. This disease typically appears in infancy or early childhood and can aff
How is Combined oxidative phosphorylation defect type 25 inherited?
Combined oxidative phosphorylation defect type 25 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 25 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 25 is infantile. Age of onset can vary across affected individuals.