Overview
Multiple mitochondrial dysfunctions syndrome type 1 (MMDS1), also known as NFU1-related mitochondrial disease, is an extremely rare and serious genetic condition that affects the body's ability to produce energy at the cellular level. Mitochondria are tiny structures inside nearly every cell that act as power plants, converting food into usable energy. In MMDS1, a key protein called NFU1 does not work properly. NFU1 is needed to build important iron-sulfur clusters that help several enzymes function correctly inside mitochondria. When these enzymes fail, the body cannot properly process fats and sugars for energy, and toxic substances can build up. Babies with MMDS1 typically appear normal at birth but soon develop serious problems. Common symptoms include poor growth, weak muscle tone, difficulty feeding, breathing problems, and neurological decline such as loss of developmental milestones. The brain is often severely affected, and many children develop a pattern of brain damage visible on MRI called leukoencephalopathy. Elevated levels of glycine in the blood and spinal fluid (a condition resembling nonketotic hyperglycinemia) and lactic acidosis are common laboratory findings. Unfortunately, there is currently no cure for MMDS1. Treatment is supportive and focuses on managing symptoms, preventing complications, and maintaining comfort. The condition typically progresses rapidly, and the prognosis is very poor, with most affected children passing away in infancy or early childhood. Research into mitochondrial diseases is ongoing, and families are encouraged to connect with specialists and support communities.
Also known as:
Key symptoms:
Poor growth and failure to thriveWeak muscle tone (floppiness)Difficulty feedingBreathing difficulties or respiratory failureLoss of developmental milestonesSeizuresAbnormal brain white matter on MRIHigh levels of glycine in blood and spinal fluidLactic acidosis (buildup of lactic acid in the blood)Lethargy and decreased alertnessPulmonary hypertension (high blood pressure in the lungs)Heart problemsAbnormal movements or spasticityVisual impairment
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 1.
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Specialists
View all specialists →No specialists are currently listed for Multiple mitochondrial dysfunctions syndrome type 1.
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 1.
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 NFU1 mutations does my child have, and what do we know about how they affect the disease?,What symptoms should I watch for that would require emergency medical attention?,Are there any clinical trials or research studies that my child might be eligible for?,What supportive treatments can help improve my child's comfort and quality of life?,Should other family members be tested to see if they are carriers of this condition?,What is the role of palliative care, and when should we involve a palliative care team?,Can you connect us with other families affected by MMDS1 or with a mitochondrial disease support organization?
Common questions about Multiple mitochondrial dysfunctions syndrome type 1
What is Multiple mitochondrial dysfunctions syndrome type 1?
Multiple mitochondrial dysfunctions syndrome type 1 (MMDS1), also known as NFU1-related mitochondrial disease, is an extremely rare and serious genetic condition that affects the body's ability to produce energy at the cellular level. Mitochondria are tiny structures inside nearly every cell that act as power plants, converting food into usable energy. In MMDS1, a key protein called NFU1 does not work properly. NFU1 is needed to build important iron-sulfur clusters that help several enzymes function correctly inside mitochondria. When these enzymes fail, the body cannot properly process fats a
How is Multiple mitochondrial dysfunctions syndrome type 1 inherited?
Multiple mitochondrial dysfunctions syndrome type 1 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 1 typically begin?
Typical onset of Multiple mitochondrial dysfunctions syndrome type 1 is neonatal. Age of onset can vary across affected individuals.