Living with Mitochondrial proton-transporting ATP synthase complex deficiency
A rare mitochondrial condition with a wide range of symptoms, including low muscle tone, heart muscle disease, and developmental delay.
Understanding Mitochondrial proton-transporting ATP synthase complex deficiency
Symptoms can include low muscle tone, thickened heart muscle (hypertrophic cardiomyopathy), delayed development, brain disease (encephalopathy), nerve damage in the arms and legs, and lactic acid buildup. It can show up as clinical syndromes such as NARP and MILS. Signs begin in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Thickened or stretched heart muscle (cardiomyopathy)
- Poor balance and coordination (ataxia)
- Seizures
- Delays in reaching developmental milestones
- Nerve damage in the arms and legs (peripheral neuropathy)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance but does not name a gene in this record.
Also known as: isolated adenosine triphosphate synthase deficiency; isolated atp synthase deficiency; isolated mitochondrial respiratory chain complex v deficiency; mitochondrial complex v (atp synthase) deficiency; mitochondrial complex v (atp synthase) deficiency, nuclear type
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Mitochondrial proton-transporting ATP synthase complex deficiency.
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