Overview
Combined oxidative phosphorylation defect type 24 (also written as COXPD24) is a rare inherited disorder that affects the way cells produce energy. Every cell in the body relies on tiny structures called mitochondria to convert food into usable energy. In COXPD24, a faulty gene disrupts this energy-making process, causing multiple parts of the mitochondrial machinery — called the respiratory chain complexes — to work poorly or not at all. This is caused by changes (mutations) in the NARS2 gene, which provides instructions for building a protein needed inside mitochondria. Because energy production is essential for every organ, COXPD24 can affect many parts of the body at once. The brain, muscles, and heart are especially vulnerable because they need large amounts of energy to function. Children with this condition often show signs early in life, including problems with brain development, muscle weakness, seizures, and hearing loss. The severity can vary from person to person, even within the same family. There is currently no cure for COXPD24. Treatment focuses on managing symptoms, supporting development, and preventing complications. A team of specialists typically works together to provide the best possible care. Early diagnosis and supportive therapies can help improve quality of life, though the condition remains serious and can significantly affect daily functioning.
Also known as:
Key symptoms:
Seizures or epilepsyMuscle weakness or poor muscle tone (hypotonia)Delayed development or intellectual disabilityHearing lossProblems with movement and coordination (ataxia)Feeding difficulties in infancyFailure to thrive or poor weight gainAbnormal brain structure seen on MRI (Leigh syndrome-like changes)Elevated lactic acid in the blood (lactic acidosis)Vision problems or abnormal eye movementsHeart muscle problems (cardiomyopathy) in some casesBreathing 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 24.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined oxidative phosphorylation defect type 24 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 24.
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 24.
Community
No community posts yet. Be the first to share your experience with Combined oxidative phosphorylation defect type 24.
Start the conversation →Latest news about Combined oxidative phosphorylation defect type 24
No recent news articles for Combined oxidative phosphorylation defect type 24.
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.What specific changes were found in the NARS2 gene, and what do they mean for my child's prognosis?,Which mitochondrial energy complexes are affected, and how does that guide treatment decisions?,Should other family members, including siblings, be tested for this condition?,Are there any clinical trials or research studies we could consider joining?,What signs of worsening should prompt an emergency room visit, and what should I tell the emergency team?,What therapies — physical, occupational, speech — are most important to start right away?,Is a mitochondrial vitamin supplement regimen recommended for my child, and if so, which ones?
Common questions about Combined oxidative phosphorylation defect type 24
What is Combined oxidative phosphorylation defect type 24?
Combined oxidative phosphorylation defect type 24 (also written as COXPD24) is a rare inherited disorder that affects the way cells produce energy. Every cell in the body relies on tiny structures called mitochondria to convert food into usable energy. In COXPD24, a faulty gene disrupts this energy-making process, causing multiple parts of the mitochondrial machinery — called the respiratory chain complexes — to work poorly or not at all. This is caused by changes (mutations) in the NARS2 gene, which provides instructions for building a protein needed inside mitochondria. Because energy produ
How is Combined oxidative phosphorylation defect type 24 inherited?
Combined oxidative phosphorylation defect type 24 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 24 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 24 is infantile. Age of onset can vary across affected individuals.