Overview
Combined oxidative phosphorylation defect type 26 (also written as COXPD26) 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 COXPD26, a fault in the MTIF3 gene disrupts this energy-making process, causing a condition known as a mitochondrial disease. Because energy production is essential for nearly every organ, this disease can affect multiple body systems at once. The most common features include problems with muscle tone (often very low muscle tone, called hypotonia), developmental delays, and difficulties with movement and coordination. Some children also experience feeding difficulties, poor growth, and neurological problems. The brain and muscles are especially vulnerable because they need large amounts of energy to work properly. Currently, there is no cure for COXPD26. Treatment focuses on managing symptoms, supporting development through therapies such as physiotherapy and speech therapy, and providing nutritional support. A team of specialists is usually needed to care for affected individuals. Research into mitochondrial diseases is ongoing, and some supportive supplements are sometimes used, though their benefit varies from person to person.
Also known as:
Key symptoms:
Very low muscle tone (floppy muscles)Delayed developmental milestones such as sitting, standing, or walkingFeeding difficulties in infancyPoor weight gain and slow growthIntellectual disability or learning difficultiesProblems with movement and coordinationFatigue and low energyNeurological problems such as seizuresAbnormal brain findings on MRI scansBreathing difficulties in some cases
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 26.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 26.
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 26.
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 MTIF3 gene, and what do they mean for my child's health?,What symptoms should prompt me to go to the emergency room, and is there an emergency care letter I can carry?,Which therapies (physiotherapy, speech therapy, occupational therapy) would benefit my child most right now?,Are there any clinical trials or research studies that my child might be eligible for?,Should other family members be tested for this gene change?,What supplements or medications do you recommend, and what is the evidence for them in this condition?,How often should my child be monitored, and which specialists should be part of the care team?
Common questions about Combined oxidative phosphorylation defect type 26
What is Combined oxidative phosphorylation defect type 26?
Combined oxidative phosphorylation defect type 26 (also written as COXPD26) 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 COXPD26, a fault in the MTIF3 gene disrupts this energy-making process, causing a condition known as a mitochondrial disease. Because energy production is essential for nearly every organ, this disease can affect multiple body systems at once. The most common features include problems with muscle tone (often very low muscle tone, called hypo
How is Combined oxidative phosphorylation defect type 26 inherited?
Combined oxidative phosphorylation defect type 26 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 26 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 26 is infantile. Age of onset can vary across affected individuals.