Overview
Combined oxidative phosphorylation defect type 23 (also written as COXPD23) 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 COXPD23, a faulty gene disrupts this energy-making process, specifically affecting a system called the mitochondrial ribosome, which is needed to build the proteins that power the cell's energy factories. When this system does not work properly, cells — especially those in the brain, muscles, and liver — do not get enough energy to function normally. This condition is caused by changes (mutations) in the GTPBP5 gene. It typically appears in infancy or early childhood and can cause a wide range of serious problems. Children with COXPD23 may show signs of brain dysfunction, muscle weakness, poor growth, and problems with multiple organs. The severity can vary from child to child. Because this is a mitochondrial disease, it tends to affect organs that need the most energy. There is currently no cure for COXPD23. Treatment focuses on managing symptoms, supporting nutrition, and protecting organ function. A team of specialists is usually needed to care for affected individuals. Research into mitochondrial diseases is ongoing, and some supportive therapies — such as certain vitamins and supplements — may be used, though their benefit in this specific condition is not yet fully proven.
Also known as:
Key symptoms:
muscle weakness or poor muscle tone (hypotonia)delayed development or regression of milestonesintellectual disability or learning difficultiespoor feeding and failure to thriveliver problems (hepatopathy)elevated lactic acid in the blood (lactic acidosis)breathing difficultiesseizuresabnormal brain structure seen on MRI (brain lesions)poor growth and low weightfatigue and low energymovement problems or coordination difficulties
Clinical phenotype terms (27)— 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 23.
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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 23.
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 currently affected in my child, and how will we monitor them over time?,Should my child be taking mitochondrial supplements, and if so, which ones and at what doses?,What are the warning signs of a metabolic crisis, and what should I do if one happens?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies (physical, occupational, speech) would benefit my child most right now?,Should other family members be tested for this condition?,What is the long-term care plan, and which specialists should we see regularly?
Common questions about Combined oxidative phosphorylation defect type 23
What is Combined oxidative phosphorylation defect type 23?
Combined oxidative phosphorylation defect type 23 (also written as COXPD23) 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 COXPD23, a faulty gene disrupts this energy-making process, specifically affecting a system called the mitochondrial ribosome, which is needed to build the proteins that power the cell's energy factories. When this system does not work properly, cells — especially those in the brain, muscles, and liver — do not get enough energy to function n
How is Combined oxidative phosphorylation defect type 23 inherited?
Combined oxidative phosphorylation defect type 23 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 23 typically begin?
Typical onset of Combined oxidative phosphorylation defect type 23 is infantile. Age of onset can vary across affected individuals.