Overview
Combined oxidative phosphorylation defect type 20 (also written as COXPD20) 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 COXPD20, a fault in the VARS2 gene disrupts this energy-making process, specifically affecting a group of proteins called the mitochondrial ribosome, which is needed to build the energy-producing machinery inside mitochondria. When this process breaks down, cells — especially those that need a lot of energy like brain and muscle cells — cannot work properly. The condition typically appears in infancy or early childhood and can cause a wide range of serious problems. Children with COXPD20 often show signs of brain dysfunction, muscle weakness, and heart problems. Developmental delays, seizures, and poor muscle tone (feeling floppy) are among the most common features. The heart muscle can also be affected, a condition called cardiomyopathy, which can be life-threatening. There is currently no cure for COXPD20. Treatment focuses on managing symptoms, supporting nutrition, controlling seizures with medication, and monitoring heart function. A team of specialists is usually needed to provide the best care. Research into mitochondrial diseases is ongoing, and some experimental approaches are being explored, though none are yet approved specifically for this condition.
Also known as:
Key symptoms:
Low muscle tone (feeling floppy or weak)Developmental delays — slow to reach milestones like sitting or walkingSeizuresHeart muscle disease (cardiomyopathy)Feeding difficulties and poor weight gainIntellectual disabilityBreathing problemsElevated lactic acid in the blood (lactic acidosis)Liver problemsPoor growthFatigue and low energy
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 20.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 20.
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 20.
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 specific changes were found in the VARS2 gene, and what do they mean for my child's health?,How severe is my child's heart involvement, and how often should it be monitored?,Should my child be taking mitochondrial supplements like CoQ10 or L-carnitine, and what is the evidence for them?,What signs should prompt me to go to the emergency room immediately?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies — physical, occupational, or speech — would benefit my child most right now?,Should other family members be tested for the VARS2 gene variants?
Common questions about Combined oxidative phosphorylation defect type 20
What is Combined oxidative phosphorylation defect type 20?
Combined oxidative phosphorylation defect type 20 (also written as COXPD20) 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 COXPD20, a fault in the VARS2 gene disrupts this energy-making process, specifically affecting a group of proteins called the mitochondrial ribosome, which is needed to build the energy-producing machinery inside mitochondria. When this process breaks down, cells — especially those that need a lot of energy like brain and muscle cells — canno
How is Combined oxidative phosphorylation defect type 20 inherited?
Combined oxidative phosphorylation defect type 20 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 20 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 20 is infantile. Age of onset can vary across affected individuals.