Living with Combined oxidative phosphorylation deficiency 34
A rare mitochondrial condition from birth with hearing loss, low blood sugar and liver and kidney problems.
Understanding Combined oxidative phosphorylation deficiency 34
People can have hearing loss from birth, blood sugar that is low sometimes or all the time, and liver and kidney problems that may progress to organ failure. Lactate in the blood may be raised.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth (sensorineural)
- Enlarged liver and liver failure
- Slow weight gain (failure to thrive)
- Low blood cell counts (pancytopenia)
- Adrenal gland underactivity
- Vomiting and fever
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in MRPS7 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
- 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 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 MRPS7 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: coxpd34; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural deafness due to coxpd; syndromic sensorineural deafness due to coxpd (combined oxidative phosphorylation defect); syndromic sensorineural hearing loss due to coxpd; syndromic sensorineural hearing loss due to coxpd (combined oxidative phosphorylation defect)
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 34.
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