Overview
Combined oxidative phosphorylation defect type 30 (also written as COXPD30) 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 COXPD30, a genetic change disrupts this energy-making process, specifically affecting a system called the oxidative phosphorylation chain. When this system does not work properly, cells — especially those in the brain, muscles, and heart — do not get enough energy to function normally. This condition is caused by changes (mutations) in the MRPS34 gene, which provides instructions for building a part of the mitochondrial ribosome — the machinery inside mitochondria that makes proteins needed for energy production. When this gene is not working correctly, the body cannot build enough of the proteins required to keep the energy system running smoothly. Children with COXPD30 typically show signs early in life, including developmental delays, muscle weakness, and problems with brain function. The heart and other organs may also be affected. Because this is a very rare condition, treatment is currently focused on managing symptoms and supporting quality of life rather than curing the underlying cause. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Developmental delay (slower than expected milestones in talking, walking, or learning)Muscle weakness or low muscle tone (feeling floppy)Poor feeding in infancyFailure to thrive (not gaining weight or growing as expected)Brain abnormalities visible on MRI scansIntellectual disabilitySeizuresBreathing difficultiesHeart muscle problems (cardiomyopathy)Elevated lactic acid in the blood (lactic acidosis)Fatigue and low energyMovement problems or coordination 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 30.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 30.
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 30.
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.Which organs are most affected in my child's case, and how will we monitor them over time?,Should my child have genetic testing, and should other family members be tested as well?,What signs of a metabolic crisis should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies that my child might be eligible for?,What vitamins or supplements do you recommend, and is there evidence they help in this specific condition?,How can I best support my child's development — what therapies are most important right now?,What is the long-term plan for monitoring my child's heart and brain health?
Common questions about Combined oxidative phosphorylation defect type 30
What is Combined oxidative phosphorylation defect type 30?
Combined oxidative phosphorylation defect type 30 (also written as COXPD30) 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 COXPD30, a genetic change disrupts this energy-making process, specifically affecting a system called the oxidative phosphorylation chain. When this system does not work properly, cells — especially those in the brain, muscles, and heart — do not get enough energy to function normally. This condition is caused by changes (mutations) in the M
How is Combined oxidative phosphorylation defect type 30 inherited?
Combined oxidative phosphorylation defect type 30 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 30 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 30 is infantile. Age of onset can vary across affected individuals.