Living with Combined oxidative phosphorylation defect type 25
A rare mitochondrial condition in newborns with low muscle tone, delayed development, a protruding chest and hearing loss.
Understanding Combined oxidative phosphorylation defect type 25
Babies have low muscle tone, global developmental delay, poor growth and sensorineural hearing loss. Many have a chest that sticks out (pectus carinatum) that gets worse over time. Facial differences and brain differences such as shrinking brain tissue are also described. It starts in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Global developmental delay
- Feeding difficulties and slow weight gain
- Protruding chest (pectus carinatum)
- Hearing loss
- Breathing food into the lungs (aspiration pneumonia)
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 brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in MARS2 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 CureARS 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 MARS2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 25; combined oxidative phosphorylation deficiency caused by mutation in mars2; combined oxidative phosphorylation deficiency type 25; coxpd25; coxpd25 - combined oxidative phosphorylation defect type 25; mars2 combined oxidative phosphorylation deficiency
Patient organizations
- CureARSCombined oxidative phosphorylation defect type 25 · United States
- 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 25.
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