Living with Combined oxidative phosphorylation deficiency
A group of rare mitochondrial conditions that often start early and affect energy-hungry organs such as the brain, heart and liver.
Understanding Combined oxidative phosphorylation deficiency
These disorders most often affect parts of the body that need a lot of energy, such as the brain, heart and liver. Gene changes interfere with how cells build the energy-making system (mitochondrial respiratory chain complexes). Symptoms vary widely.
Signs & symptoms
Symptoms vary widely. GARD's summary says they can include:
- Muscle weakness
- Developmental delay
- Hearing loss
- Heart problems
- Problems with multiple organs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes interfere with building and assembling the mitochondrial respiratory chain complexes. GARD lists mitochondrial inheritance.
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined oxidative phosphorylation deficiency.
Explore research for Combined oxidative phosphorylation deficiency
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