Overview
Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is an extremely rare genetic disorder that affects the mitochondria, which are the tiny energy-producing structures inside nearly every cell of the body. This condition is caused by mutations in the IBA57 gene, which plays a key role in building important iron-sulfur clusters that mitochondria need to function properly. When these clusters cannot be made correctly, the mitochondria fail to produce enough energy, and several critical chemical processes in the body break down. MMDS3 typically presents very early in life, often in the newborn period or during infancy. Affected babies may show severe neurological problems including abnormal brain development (leukoencephalopathy), difficulty breathing, poor muscle tone (hypotonia), seizures, and failure to thrive. Some children develop a buildup of certain acids in the body, known as metabolic acidosis, particularly elevated glycine levels (hyperglycinemia). The brain is often severely affected, and imaging may show characteristic white matter abnormalities. Unfortunately, there is currently no cure for MMDS3. Treatment is supportive and focuses on managing symptoms such as seizures, breathing difficulties, and nutritional needs. The prognosis is generally very poor, with many affected infants experiencing severe disability or early death. Research into mitochondrial diseases is ongoing, and families are encouraged to connect with metabolic disease specialists and genetic counselors for the most up-to-date guidance and support.
Also known as:
Key symptoms:
Severe low muscle tone (floppy baby)SeizuresDifficulty breathing or respiratory failurePoor feeding and failure to thriveAbnormal brain white matter on MRIDevelopmental delay or lack of developmental milestonesHigh levels of glycine in the blood and spinal fluidMetabolic acidosis (too much acid in the body)Elevated lactate levels in the bloodSpasticity or abnormal muscle stiffnessVision problems or optic atrophyLethargy or excessive sleepinessRegression of previously acquired skills
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 3.
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Specialists
View all specialists →No specialists are currently listed for Multiple mitochondrial dysfunctions syndrome type 3.
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 3.
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 mutations were found in my child's IBA57 gene, and what do they mean for the expected course of the disease?,What supportive treatments are available to help manage my child's symptoms?,Are there any clinical trials or experimental therapies that my child might be eligible for?,What emergency signs should I watch for at home, and what should I do if they occur?,Should other family members be tested to see if they are carriers?,What palliative care and family support services are available to us?,If we plan to have more children, what are our options for prenatal or preimplantation genetic testing?
Common questions about Multiple mitochondrial dysfunctions syndrome type 3
What is Multiple mitochondrial dysfunctions syndrome type 3?
Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is an extremely rare genetic disorder that affects the mitochondria, which are the tiny energy-producing structures inside nearly every cell of the body. This condition is caused by mutations in the IBA57 gene, which plays a key role in building important iron-sulfur clusters that mitochondria need to function properly. When these clusters cannot be made correctly, the mitochondria fail to produce enough energy, and several critical chemical processes in the body break down. MMDS3 typically presents very early in life, often in the n
How is Multiple mitochondrial dysfunctions syndrome type 3 inherited?
Multiple mitochondrial dysfunctions syndrome type 3 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 3 typically begin?
Typical onset of Multiple mitochondrial dysfunctions syndrome type 3 is neonatal. Age of onset can vary across affected individuals.