Overview
Combined oxidative phosphorylation defect type 39 (also written as COXPD39) is a very rare inherited disease that affects how cells make energy. Every cell in the body relies on tiny structures called mitochondria to convert food into usable energy. In COXPD39, a change in the PTCD1 gene disrupts this energy-making process, causing multiple parts of the mitochondrial machinery — called the oxidative phosphorylation complexes — to work poorly at the same time. Because energy production is impaired, the organs and tissues that need the most energy are hit hardest. This typically includes the brain, muscles, and heart. Children with COXPD39 often show signs of the disease early in life, including problems with brain development, muscle weakness, and poor growth. The heart can also be affected, which requires close monitoring. There is currently no cure for COXPD39. Treatment focuses on managing symptoms, supporting nutrition, and protecting organ function. A team of specialists — including metabolic geneticists, neurologists, and cardiologists — usually works together to care for affected individuals. Research into mitochondrial diseases is ongoing, and some supportive supplements like CoQ10 and riboflavin are sometimes used, though their benefit in COXPD39 specifically has not been proven in large studies.
Key symptoms:
Muscle weakness or poor muscle tone (hypotonia)Delayed development or intellectual disabilityPoor growth and low weightHeart muscle disease (cardiomyopathy)Feeding difficulties in infancyElevated lactic acid in the blood (lactic acidosis)SeizuresBreathing problemsLiver dysfunctionFatigue and low energy
Clinical phenotype terms (50)— 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 39.
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Specialists
View all specialists →No specialists are currently listed for Combined oxidative phosphorylation defect type 39.
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 39.
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.Which organs are most affected in my child's case, and how will we monitor them over time?,Should my child be taking any mitochondrial supplements, 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 we could participate in?,How will this condition affect my child's development and schooling long-term?,Should other family members be tested for the PTCD1 gene change?,What specialists should be part of our care team, and how often should we see each one?
Common questions about Combined oxidative phosphorylation defect type 39
What is Combined oxidative phosphorylation defect type 39?
Combined oxidative phosphorylation defect type 39 (also written as COXPD39) is a very rare inherited disease that affects how cells make energy. Every cell in the body relies on tiny structures called mitochondria to convert food into usable energy. In COXPD39, a change in the PTCD1 gene disrupts this energy-making process, causing multiple parts of the mitochondrial machinery — called the oxidative phosphorylation complexes — to work poorly at the same time. Because energy production is impaired, the organs and tissues that need the most energy are hit hardest. This typically includes the br
How is Combined oxidative phosphorylation defect type 39 inherited?
Combined oxidative phosphorylation defect type 39 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 39 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 39 is infantile. Age of onset can vary across affected individuals.