Overview
Mitochondrial disorder due to a defect in mitochondrial protein synthesis is a rare inherited condition that affects the mitochondria — the tiny structures inside your cells that produce energy. When the mitochondria cannot make proteins correctly, cells throughout the body do not get enough energy to work properly. This is especially harmful to organs and tissues that need a lot of energy, such as the brain, muscles, heart, and eyes. This condition belongs to a broad group of diseases called mitochondrial disorders. Because mitochondria are found in almost every cell in the body, symptoms can affect many different organ systems at the same time. Common symptoms include muscle weakness, problems with movement and coordination, vision or hearing loss, heart problems, developmental delays, and seizures. The severity and combination of symptoms can vary greatly from person to person, even within the same family. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting affected organs, and improving quality of life. A team of specialists is usually needed to provide the best care. Some vitamins and supplements, sometimes called a 'mitochondrial cocktail,' are commonly used, though their benefit varies. Early diagnosis and a coordinated care plan can make a meaningful difference in daily life and long-term outcomes.
Also known as:
Key symptoms:
Muscle weakness or low muscle toneExtreme tiredness and low energyProblems with balance and coordinationDevelopmental delays or intellectual disabilitySeizuresVision problems or vision lossHearing lossHeart muscle problems (cardiomyopathy)Difficulty swallowing or feedingBreathing difficultiesLiver problemsDiabetes or other hormone problemsStroke-like episodesPoor growth or failure to thriveGastrointestinal problems such as nausea, vomiting, or constipation
Mitochondrial
Passed from mother to child through the energy-producing parts of the cell
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mitochondrial disorder due to a defect in mitochondrial protein synthesis.
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Rare Disease Specialist
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 Mitochondrial disorder due to a defect in mitochondrial protein synthesis.
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Disease timeline:
New trial: Validation and Clinical Utility of the Lung Sliding Index (LSI) for Differentiating Pulmonary Diseas
Phase NA trial recruiting. Lung Ultrasound
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which specific gene or genetic change is causing my condition, and what does that mean for my prognosis?,Which organs are most at risk for me, and how will we monitor them over time?,Should I be taking a mitochondrial supplement cocktail, and if so, which supplements and at what doses?,Are there any medications, foods, or activities I should avoid because they could make my condition worse?,What is my emergency plan if I have a metabolic crisis, and what should I tell emergency room doctors?,Are there any clinical trials or research studies I might be eligible to join?,What support services — such as physical therapy, educational support, or social services — should I be accessing?
Common questions about Mitochondrial disorder due to a defect in mitochondrial protein synthesis
What is Mitochondrial disorder due to a defect in mitochondrial protein synthesis?
Mitochondrial disorder due to a defect in mitochondrial protein synthesis is a rare inherited condition that affects the mitochondria — the tiny structures inside your cells that produce energy. When the mitochondria cannot make proteins correctly, cells throughout the body do not get enough energy to work properly. This is especially harmful to organs and tissues that need a lot of energy, such as the brain, muscles, heart, and eyes. This condition belongs to a broad group of diseases called mitochondrial disorders. Because mitochondria are found in almost every cell in the body, symptoms ca
How is Mitochondrial disorder due to a defect in mitochondrial protein synthesis inherited?
Mitochondrial disorder due to a defect in mitochondrial protein synthesis follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Mitochondrial disorder due to a defect in mitochondrial protein synthesis?
1 specialists and care centers treating Mitochondrial disorder due to a defect in mitochondrial protein synthesis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.