Living with Combined oxidative phosphorylation defect type 9
A rare mitochondrial condition with normal early growth, then slow weight gain, feeding trouble and severe thickened heart muscle in infancy.
Understanding Combined oxidative phosphorylation defect type 9
Growth and development start out typical. In infancy, babies gain weight slowly, have delayed skills, poor feeding, trouble breathing, severe thickened heart muscle and an enlarged liver. Blood tests show raised lactate and abnormal liver enzymes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Enlarged liver
- Slow weight gain (failure to thrive)
- Feeding difficulties
- Global developmental delay
- Kidney inflammation (tubulointerstitial nephritis)
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.
- 3Consider genetic testing
Changes in MRPL3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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 the MRPL3 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency caused by mutation in mrpl3; combined oxidative phosphorylation deficiency type 9; coxpd9; coxpd9 - combined oxidative phosphorylation defect type 9; mrpl3 combined oxidative phosphorylation deficiency
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 defect type 9.
Explore research for Combined oxidative phosphorylation defect type 9
Explore actively recruiting Combined oxidative phosphorylation defect type 9 studies with HealthSpark.
Find actively recruiting studies for Combined oxidative phosphorylation defect type 9 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Combined oxidative phosphorylation defect type 9 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Combined oxidative phosphorylation defect type 9
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Combined oxidative phosphorylation defect type 9 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.