Overview
Combined oxidative phosphorylation defect type 8 (COXPD8) 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 COXPD8, this energy-making process is severely impaired because of mutations in the AARS2 gene, which is needed to build proteins inside mitochondria. This condition typically appears in infancy or early childhood and primarily affects organs that need the most energy, especially the brain and heart. Affected babies may develop a serious heart condition called hypertrophic cardiomyopathy (thickening of the heart muscle), along with brain abnormalities seen on MRI scans, known as leukoencephalopathy (damage to the brain's white matter). Symptoms can include poor feeding, failure to thrive, muscle weakness, developmental delays, seizures, and breathing difficulties. There is currently no cure for COXPD8. Treatment is supportive and focuses on managing symptoms such as heart failure, seizures, and nutritional needs. The prognosis is generally poor, with many affected infants experiencing rapid decline. A later-onset form primarily affecting the brain has also been described, particularly in females, presenting with progressive loss of motor and cognitive skills.
Also known as:
Key symptoms:
Thickening of the heart muscle (hypertrophic cardiomyopathy)Brain white matter damage visible on MRIPoor feeding and failure to thriveMuscle weakness and low muscle toneDevelopmental delaysSeizuresBreathing difficultiesLactic acid buildup in the bloodLoss of previously learned skills (regression)Difficulty with movement and coordinationPremature ovarian failure in females (later-onset form)Vision problemsSpeech 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 8.
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Specialists
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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 8.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 AARS2 mutations does my child have, and what does that mean for the expected disease course?,How often should my child's heart function be monitored?,Are there any clinical trials or experimental treatments available for this condition?,What emergency warning signs should I watch for at home?,Would mitochondrial supplements like CoQ10 or riboflavin be worth trying?,What supportive therapies (physical, occupational, speech) would benefit my child?,Should our family members be tested to see if they are carriers of this gene mutation?
Common questions about Combined oxidative phosphorylation defect type 8
What is Combined oxidative phosphorylation defect type 8?
Combined oxidative phosphorylation defect type 8 (COXPD8) 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 COXPD8, this energy-making process is severely impaired because of mutations in the AARS2 gene, which is needed to build proteins inside mitochondria. This condition typically appears in infancy or early childhood and primarily affects organs that need the most energy, especially the brain and hea
How is Combined oxidative phosphorylation defect type 8 inherited?
Combined oxidative phosphorylation defect type 8 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 8 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 8 is infantile. Age of onset can vary across affected individuals.