Living with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
A mitochondrial condition that starts soon after birth, with low muscle tone, thickened heart muscle, and breathing pauses.
Understanding Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Within hours after birth, babies may have low muscle tone (hypotonia), thickened heart muscle (hypertrophic cardiomyopathy), and pauses in breathing (apneic spells). Blood tests may show lactic acidosis, high ammonia (hyperammonemia), and a substance called 3-methylglutaconic acid in the urine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Low muscle tone (hypotonia)
- Heart failure
- Enlarged liver
- Delays in reaching developmental milestones
- Slow growth
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 TMEM70 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
This condition is caused by changes in the TMEM70 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency; mc5dn2; mitochondrial complex v (atp synthase) deficiency, tmem70 type; mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency; mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency; mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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