Living with Combined oxidative phosphorylation defect type 30
A rare mitochondrial condition in newborns with low muscle tone, feeding trouble, hearing loss and breathing problems.
Understanding Combined oxidative phosphorylation defect type 30
Babies have low muscle tone, feeding difficulties, deafness and respiratory failure. Heart and liver involvement has been reported. Blood lactate is raised, and muscle tests show lower activity of energy-making complexes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Feeding difficulties and poor suck
- Hearing loss (sensorineural)
- Breathing failure
- Thickened heart wall (left ventricular hypertrophy)
- Acid reflux
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 and genetic specialists.
- 3Consider genetic testing
Changes in TRMT10C 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); 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 TRMT10C gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 30; combined oxidative phosphorylation deficiency caused by mutation in trmt10c; combined oxidative phosphorylation deficiency type 30; coxpd30; coxpd30 - combined oxidative phosphorylation defect type 30; trmt10c 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 30.
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