Overview
TMEM70-related mitochondrial encephalo-cardio-myopathy is a rare inherited condition that affects the body's ability to produce energy at the cellular level. It is caused by problems with a protein called TMEM70, which is needed to build a key energy-producing machine in cells known as ATP synthase (also called mitochondrial complex V). Without enough working ATP synthase, cells throughout the body — especially those in the brain, heart, and muscles — cannot make enough energy to function properly. Babies with this condition are usually very sick from birth or within the first days of life. Common problems include a weak or enlarged heart (cardiomyopathy), poor muscle tone (hypotonia), difficulty feeding, and a dangerous buildup of lactic acid in the blood (lactic acidosis). Many affected children also develop intellectual disability and delayed development. Some babies experience life-threatening metabolic crises, especially during illness or stress. There is currently no cure for this disease. Treatment focuses on managing symptoms, supporting heart function, preventing metabolic crises, and providing nutritional support. The condition is also known as mitochondrial complex V (ATP synthase) deficiency nuclear type 2, or nuclear-encoded ATP synthase deficiency due to TMEM70 mutations. Despite its severity, early recognition and supportive care can improve quality of life for affected children.
Also known as:
Key symptoms:
Weak or enlarged heart (cardiomyopathy)Poor muscle tone (floppiness)Difficulty feeding or poor suckingBuildup of lactic acid in the bloodLow blood sugar episodesHigh ammonia levels in the bloodDelayed development and intellectual disabilityFailure to gain weight and growSeizuresFacial features that may appear slightly unusualFatigue and low energyBreathing difficultiesEpisodes of metabolic crisis during illness
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for TMEM70-related mitochondrial encephalo-cardio-myopathy.
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Specialists
View all specialists →No specialists are currently listed for TMEM70-related mitochondrial encephalo-cardio-myopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to TMEM70-related mitochondrial encephalo-cardio-myopathy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's heart involvement, and what monitoring is needed?,What is the emergency plan if my child becomes sick or stops eating?,Should my child take any mitochondrial supplements like CoQ10 or carnitine?,How often should we have cardiology and metabolic check-ups?,What feeding plan is best to prevent metabolic crises?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested as carriers of this gene change?
Common questions about TMEM70-related mitochondrial encephalo-cardio-myopathy
What is TMEM70-related mitochondrial encephalo-cardio-myopathy?
TMEM70-related mitochondrial encephalo-cardio-myopathy is a rare inherited condition that affects the body's ability to produce energy at the cellular level. It is caused by problems with a protein called TMEM70, which is needed to build a key energy-producing machine in cells known as ATP synthase (also called mitochondrial complex V). Without enough working ATP synthase, cells throughout the body — especially those in the brain, heart, and muscles — cannot make enough energy to function properly. Babies with this condition are usually very sick from birth or within the first days of life. C
How is TMEM70-related mitochondrial encephalo-cardio-myopathy inherited?
TMEM70-related mitochondrial encephalo-cardio-myopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TMEM70-related mitochondrial encephalo-cardio-myopathy typically begin?
Typical onset of TMEM70-related mitochondrial encephalo-cardio-myopathy is neonatal. Age of onset can vary across affected individuals.