Living with Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
An extremely rare mitochondrial disorder of newborns and infants with low muscle tone, high lactic acid, liver problems and brain or heart muscle disease.
Understanding Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Signs vary but include low muscle tone (hypotonia), high lactic acid (lactic acidosis), and liver problems. Some babies have worsening brain and muscle disease, and others have thickened heart muscle (hypertrophic cardiomyopathy). It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Brain disease (encephalopathy)
- Thickened heart muscle
- Seizures
- Breathing difficulty
- Poor sucking
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 TSFM 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 TSFM gene cause it. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 3; combined oxidative phosphorylation deficiency caused by mutation in tsfm; combined oxidative phosphorylation deficiency type 3; encephalomyopathy, respiratory failure, and lactic acidosis; fatal mitochondrial disease due to coxpd3; tsfm 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 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3.
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