Overview
Combined oxidative phosphorylation defect type 9 (COXPD9) 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 COXPD9, this energy-making process is severely impaired because of mutations in the MRPL3 gene, which is needed to build proteins within the mitochondria. This condition typically appears in infancy and can affect multiple organs that need a lot of energy, especially the brain, heart, and liver. Babies with this condition may show poor growth, feeding difficulties, low muscle tone, developmental delays, and liver problems. Some children develop a serious brain condition called Leigh syndrome, which causes progressive neurological decline. Heart problems, including an enlarged or weakened heart (cardiomyopathy), may also occur. There is currently no cure for COXPD9. Treatment focuses on managing symptoms and supporting affected organs. Because the disease is so rare, knowledge about it continues to grow as more cases are identified through genetic testing. A team of specialists is usually needed to provide the best possible care for affected children.
Also known as:
Key symptoms:
Poor growth and failure to thriveLow muscle tone (floppiness)Developmental delaysFeeding difficultiesLiver dysfunction or liver failureEnlarged or weakened heart (cardiomyopathy)SeizuresLactic acidosis (buildup of acid in the blood)Brain abnormalities similar to Leigh syndromeBreathing difficultiesMovement problemsIntellectual disabilityFatigue and low energyVision problems
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 9.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 9.
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 9.
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 organs are most affected in my child's case, and how will you monitor them?,What is the expected course of this disease for my child based on their specific genetic mutations?,What emergency signs should I watch for, and what should I do if they occur?,Are there any supplements or medications that might help, even if not proven?,Is there a sick-day or emergency protocol I should follow during illness?,Are there any clinical trials or research studies my child might be eligible for?,Can you connect us with a mitochondrial disease center or support group?
Common questions about Combined oxidative phosphorylation defect type 9
What is Combined oxidative phosphorylation defect type 9?
Combined oxidative phosphorylation defect type 9 (COXPD9) 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 COXPD9, this energy-making process is severely impaired because of mutations in the MRPL3 gene, which is needed to build proteins within the mitochondria. This condition typically appears in infancy and can affect multiple organs that need a lot of energy, especially the brain, heart, and liver. B
How is Combined oxidative phosphorylation defect type 9 inherited?
Combined oxidative phosphorylation defect type 9 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 9 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 9 is infantile. Age of onset can vary across affected individuals.