Overview
Combined oxidative phosphorylation defect type 13 (COXPD13) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, there are tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD13, a genetic change in the PNPT1 gene disrupts this energy-making process, leading to problems in multiple organs that need a lot of energy to function properly. This condition typically appears in infancy or early childhood. Children with COXPD13 may experience hearing loss (often sensorineural, meaning it involves the inner ear or nerve pathways), developmental delays, movement problems, muscle weakness, and brain abnormalities that can be seen on MRI scans. Some children also develop vision problems and may have episodes of worsening symptoms during illness or stress. The severity can vary between affected individuals, but the condition generally has a significant impact on development and daily functioning. There is currently no cure for COXPD13. Treatment focuses on managing symptoms and supporting the child's development. This may include hearing aids or cochlear implants for hearing loss, physical and occupational therapy, and careful monitoring by a team of specialists. Some doctors may try mitochondrial supplements such as coenzyme Q10 or riboflavin, though their effectiveness has not been proven in clinical trials for this specific condition.
Also known as:
Key symptoms:
Hearing loss (sensorineural)Developmental delayMuscle weaknessMovement difficulties or poor coordinationVision problemsBrain abnormalities on MRIDelayed speech developmentIntellectual disabilityPoor growth or failure to thriveLow muscle tone (floppiness)Fatigue and low energyEpisodes of worsening symptoms during illnessDifficulty with balance and walking
Clinical phenotype terms (33)— hover any for plain English
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 13.
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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 13.
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.How severe is my child's condition based on the specific genetic mutations found?,What therapies should we start right away to support development?,Should my child take any mitochondrial supplements like coenzyme Q10 or carnitine?,What should we do if my child gets sick — is there a sick-day emergency plan?,How often should hearing and vision be checked?,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 13
What is Combined oxidative phosphorylation defect type 13?
Combined oxidative phosphorylation defect type 13 (COXPD13) is an extremely rare genetic disorder that affects how cells produce energy. Inside nearly every cell in your body, there are tiny structures called mitochondria that act like power plants, converting food into usable energy through a process called oxidative phosphorylation. In COXPD13, a genetic change in the PNPT1 gene disrupts this energy-making process, leading to problems in multiple organs that need a lot of energy to function properly. This condition typically appears in infancy or early childhood. Children with COXPD13 may e
How is Combined oxidative phosphorylation defect type 13 inherited?
Combined oxidative phosphorylation defect type 13 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 13 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 13 is infantile. Age of onset can vary across affected individuals.