Living with Combined oxidative phosphorylation deficiency 28
A rare mitochondrial condition with a range from severe newborn illness to episodes of heart and lung trouble and slow muscle weakness.
Understanding Combined oxidative phosphorylation deficiency 28
Some babies have fluid swelling before birth, low muscle tone, a slow heartbeat and breathing failure in the newborn period. Others have episodes of acute heart and lung trouble with severe acid build-up in infancy, and slowly worsening muscle weakness.
Signs & symptoms
GARD lists few symptoms for this condition. These are listed as less common:
- Low muscle tone
- Abdominal pain
- Heart failure
- Fatigue
- Muscle weakness that slowly worsens
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 SLC25A26 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 SLC25A26 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation defect type 28; combined oxidative phosphorylation deficiency caused by mutation in slc25a26; combined oxidative phosphorylation deficiency type 28; coxpd28; coxpd28 - combined oxidative phosphorylation defect type 28; neonatal severe cardiopulmonary failure due to mitochondrial methylation 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 28.
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