Overview
Multiple mitochondrial dysfunctions syndrome type 2 (MMDS2) is an extremely rare genetic disorder that affects the mitochondria — the tiny power plants inside every cell that produce energy. This disease is caused by mutations in the BOLA3 gene, which plays a key role in building important iron-sulfur clusters that mitochondria need to function properly. Without these clusters, several critical enzymes inside the mitochondria cannot work, leading to a severe energy crisis throughout the body. MMDS2 typically appears in newborns or very young infants. Affected babies often show poor feeding, failure to thrive, severe muscle weakness (hypotonia), breathing difficulties, and neurological problems such as seizures and developmental regression. The disease also causes a dangerous buildup of lactic acid in the blood (lactic acidosis) and abnormal levels of glycine (a type of amino acid). Brain imaging often reveals abnormal white matter changes (leukoencephalopathy). Because mitochondria are essential for nearly every organ, the disease can affect the brain, heart, lungs, and other systems. Unfortunately, there is currently no cure for MMDS2. Treatment is supportive and focuses on managing symptoms such as seizures, metabolic crises, and nutritional needs. The prognosis is generally very poor, with many affected children experiencing severe disability or early death. Research into mitochondrial diseases is ongoing, and families are encouraged to connect with metabolic specialists and genetic counselors for the most up-to-date guidance.
Also known as:
Key symptoms:
Severe muscle weakness (floppy baby)SeizuresPoor feeding and failure to thriveBreathing difficultiesHigh lactic acid in the bloodElevated glycine levels in blood and spinal fluidDevelopmental delay or regressionAbnormal brain white matter on MRILethargy and low energyHeart problems (cardiomyopathy)Episodes of metabolic crisisInvoluntary muscle movements (spasticity)Vision problemsDifficulty swallowing
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 Multiple mitochondrial dysfunctions syndrome type 2.
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Specialists
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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 Multiple mitochondrial dysfunctions syndrome type 2.
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.What specific BOLA3 mutations does my child have, and what does this mean for their outlook?,What signs of a metabolic crisis should I watch for, and what should I do if one occurs?,Are there any vitamins or supplements that might help, even if only slightly?,What is the plan for managing seizures and feeding difficulties?,Should we involve palliative care, and what services can they provide?,Are there any clinical trials or research studies my child might be eligible for?,What does this diagnosis mean for future pregnancies, and should we pursue genetic counseling?
Common questions about Multiple mitochondrial dysfunctions syndrome type 2
What is Multiple mitochondrial dysfunctions syndrome type 2?
Multiple mitochondrial dysfunctions syndrome type 2 (MMDS2) is an extremely rare genetic disorder that affects the mitochondria — the tiny power plants inside every cell that produce energy. This disease is caused by mutations in the BOLA3 gene, which plays a key role in building important iron-sulfur clusters that mitochondria need to function properly. Without these clusters, several critical enzymes inside the mitochondria cannot work, leading to a severe energy crisis throughout the body. MMDS2 typically appears in newborns or very young infants. Affected babies often show poor feeding, f
How is Multiple mitochondrial dysfunctions syndrome type 2 inherited?
Multiple mitochondrial dysfunctions syndrome type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple mitochondrial dysfunctions syndrome type 2 typically begin?
Typical onset of Multiple mitochondrial dysfunctions syndrome type 2 is neonatal. Age of onset can vary across affected individuals.