Overview
Combined oxidative phosphorylation defect type 14 (COXPD14) 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 COXPD14, a genetic change in the FARS2 gene disrupts this energy-making process, particularly affecting organs and tissues that need the most energy, such as the brain, muscles, and liver. This condition typically appears very early in life, often in the newborn period or during infancy. Affected babies may experience severe seizures (epilepsy), poor muscle tone, difficulty feeding, and developmental delays. Some children develop a serious brain condition called Alpers syndrome, which involves progressive loss of brain function. Liver problems can also occur and may be severe. The severity of symptoms can vary between individuals, but the disease generally follows a progressive course. There is currently no cure for COXPD14. Treatment focuses on managing symptoms and supporting the child's quality of life. This may include anti-seizure medications, nutritional support, physical therapy, and careful monitoring of organ function. Because the disease is so rare, research is still ongoing to better understand it and develop new therapies. A team of specialists working together is essential for providing the best possible care.
Also known as:
Key symptoms:
Seizures or epilepsy, often starting in infancyPoor muscle tone (floppy baby)Severe developmental delayDifficulty feeding or swallowingFailure to thrive or poor weight gainProgressive loss of brain functionLiver problems or liver failureLactic acidosis (buildup of lactic acid in the blood)Muscle weaknessLoss of previously learned skills (regression)Abnormal eye movementsBreathing difficultiesIrritability or excessive crying
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Combined oxidative phosphorylation defect type 14.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 14.
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 14.
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 is the expected course of this disease for my child based on their specific genetic findings?,Which anti-seizure medications are safest for my child, and which should we avoid?,How often should my child's liver function and metabolic markers be monitored?,Are there any clinical trials or experimental treatments we should consider?,What nutritional support does my child need, and should we consider tube feeding?,What emergency signs should prompt us to go to the hospital immediately?,Can you connect us with palliative care, social work, and family support services?
Common questions about Combined oxidative phosphorylation defect type 14
What is Combined oxidative phosphorylation defect type 14?
Combined oxidative phosphorylation defect type 14 (COXPD14) 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 COXPD14, a genetic change in the FARS2 gene disrupts this energy-making process, particularly affecting organs and tissues that need the most energy, such as the brain, muscles, and liver. This condition typically appears very early in life, often in the newborn period or dur
How is Combined oxidative phosphorylation defect type 14 inherited?
Combined oxidative phosphorylation defect type 14 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 14 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 14 is neonatal. Age of onset can vary across affected individuals.