Overview
Combined oxidative phosphorylation defect type 27 (also written as COXPD27) 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 COXPD27, a fault in the MTFMT gene disrupts this energy-making process, causing the mitochondria to work poorly. This is sometimes called a mitochondrial translation defect because the gene normally helps mitochondria build the proteins they need to function. Because energy production is essential for every organ, COXPD27 can affect many parts of the body at once. The brain and muscles are especially vulnerable because they need large amounts of energy to work properly. Children with this condition often show signs of Leigh syndrome or a Leigh-like illness, which involves progressive damage to specific areas of the brain. Common symptoms include developmental delays, muscle weakness, poor coordination, breathing difficulties, and problems with vision or eye movement. There is currently no cure for COXPD27. Treatment focuses on managing symptoms, supporting nutrition, and using certain vitamins or supplements that may help mitochondria work a little better. A team of specialists is usually needed to provide the best care. Early diagnosis is important so that supportive therapies can begin as soon as possible.
Also known as:
Key symptoms:
Developmental delay or regression (losing skills already learned)Muscle weakness or low muscle tone (feeling floppy)Poor coordination and balance problemsDifficulty breathing or episodes of rapid breathingProblems with eye movement or drooping eyelidsVision problemsFeeding difficulties in infancyFailure to thrive or poor weight gainSeizuresFatigue and very low energyBrain abnormalities visible on MRI (Leigh syndrome pattern)Elevated lactic acid in the bloodSpeech and language delays
Clinical phenotype terms (29)— 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 27.
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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 27.
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 MTFMT gene, and what do they mean for my child's health?,Which specialists should be part of my child's care team, and how often should we see each one?,Are there any supplements or vitamins that might help, and what is the evidence for them?,What are the warning signs of a metabolic crisis, and what should I do if one happens?,How will this condition affect my child's development and learning, and what therapies are recommended?,Are there any clinical trials or research studies we should consider joining?,What is the risk that future children in our family could be affected, and should other family members be tested?
Common questions about Combined oxidative phosphorylation defect type 27
What is Combined oxidative phosphorylation defect type 27?
Combined oxidative phosphorylation defect type 27 (also written as COXPD27) 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 COXPD27, a fault in the MTFMT gene disrupts this energy-making process, causing the mitochondria to work poorly. This is sometimes called a mitochondrial translation defect because the gene normally helps mitochondria build the proteins they need to function. Because energy production is essential for every organ, COXPD27 can affect many par
How is Combined oxidative phosphorylation defect type 27 inherited?
Combined oxidative phosphorylation defect type 27 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 27 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 27 is infantile. Age of onset can vary across affected individuals.