Overview
Combined oxidative phosphorylation defect type 17 (COXPD17) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD17, this energy-making process is disrupted because of a problem with a gene called ELAC2, which is needed to properly process transfer RNAs inside mitochondria. Without working transfer RNAs, the mitochondria cannot build the proteins they need to generate energy efficiently. This disease typically appears in infancy and can affect multiple organs, especially those that need a lot of energy, such as the brain, heart, and muscles. Common symptoms include poor growth, weak muscle tone (hypotonia), developmental delays, heart problems (hypertrophic cardiomyopathy), and elevated levels of lactic acid in the blood. Some children may also experience liver problems and breathing difficulties. There is currently no cure for COXPD17. Treatment is supportive and focuses on managing individual symptoms, such as heart medications for cardiomyopathy, physical therapy for muscle weakness, and nutritional support for poor growth. Because the disease is so rare, research is limited, and management is guided by experience with similar mitochondrial disorders. A team of specialists is usually needed to provide the best possible care.
Also known as:
Key symptoms:
Weak muscle tone (floppiness)Poor growth and failure to thriveDevelopmental delaysHeart muscle thickening (hypertrophic cardiomyopathy)High lactic acid levels in the bloodBreathing difficultiesLiver problemsFeeding difficultiesSeizuresIntellectual disabilityFatigue and low energyMovement 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 17.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 17.
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 17.
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 condition based on the genetic findings and current symptoms?,Which organs are affected and how will they be monitored over time?,Are there any supplements or vitamins that might help support mitochondrial function?,What should I do if my child becomes sick with a fever or infection — is there a special emergency plan?,What therapies (physical, occupational, speech) would benefit my child right now?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested to see if they are carriers?
Common questions about Combined oxidative phosphorylation defect type 17
What is Combined oxidative phosphorylation defect type 17?
Combined oxidative phosphorylation defect type 17 (COXPD17) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, tiny structures called mitochondria act as power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD17, this energy-making process is disrupted because of a problem with a gene called ELAC2, which is needed to properly process transfer RNAs inside mitochondria. Without working transfer RNAs, the mitochondria cannot build the proteins they need to generate energy efficie
How is Combined oxidative phosphorylation defect type 17 inherited?
Combined oxidative phosphorylation defect type 17 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 17 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 17 is infantile. Age of onset can vary across affected individuals.