Understanding & Navigating Mitochondrial Disease
What Is Mitochondrial Disease?
When mitochondria cannot convert food and oxygen into life-sustaining energy, cell injury and even cell death follow. When this process is repeated throughout the body, organ systems begin to fail and even stop functioning.
Why Do Mitochondria Malfunction?
There is still so much to uncover, but this is what we do know. Mitochondrial disease is an inherited condition. Your mitochondria can also be affected by other genetic disorders and environmental factors. You can learn more about the biology behind mitochondrial disease here.
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.
How Mitochondrial Disease Affects the Body
The parts of your body that need the most energy – heart, brain, muscles – are most affected by mitochondrial disease. An affected individual may exhibit a spectrum of symptoms.
developmental delays, dementia, migraines, autistic features, seizure, stroke, atypical cerebral palsy, learning disabilities
weakness/failure, cramping, reflux, vomiting, constipation, diarrhea, hypotonia, dysmotility
fainting, zero reflexes, heat/cold intolerance, pain
diabetes, pancreatic failure, parathyroid failure
defects, blockage, cardiomyopathy
low blood sugar, liver failure
vision loss, ptosis, optic atrophy, strabismus, ophthalmoplegia, retinitis pigmentosa
There are many types of mitochondrial disease. Each disorder produces a spectrum of abnormalities that can be confusing to both patients and physicians.
3+ malfunctioning organ systems is a red flag for mitochondrial disease.
Blood and urine to check levels of amino acids, acylcarnitines, lactate, pyruvate and urine organic acids
Muscle biopsy typically taken from the thigh
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How many individuals are affected by mitochondrial disease?
The exact number of individuals suffering from Mitochondrial Disease is hard to determine because so many who suffer from the disease are frequently misdiagnosed. One in 5,000 individuals has a genetic mitochondrial disease.
Can adults have mitochondrial disease?
While this disease primarily affects children, adult onset is becoming more common. The aging process itself may result from deteriorating mitochondrial function. There is a broad spectrum of metabolic, inherited and acquired disorders in adults that can be attributed to abnormal mitochondrial function.
When is someone with mitochondrial disease considered high risk?
Both children and adults are at a high risk for neurological and organ damage during times of extra stress on the body. This includes during and for the two weeks following an illness, starvation, dehydration, surgery, anesthesia, and IV antibiotic.
What is the prognosis for individuals affected by mitochondrial diseases?
That is a tough question to answer because the prognosis depends upon a variety of criteria. Some affected children and adults are living fairly normal lives. In other cases, affected children may not survive beyond their teenage years. Adult onset can result in drastic lifestyle and physical changes in a short amount of time.
How does UMDF support research to find a cure?
UMDF funds the best science around the globe, including nearly $12 million in research to advance treatments and cures. Our Research Grant Program and accelerators program supports the top minds in mitochondrial medicine.
Educate Yourself at Mito University
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As we fight to find a cure for mitochondrial disease, there are some treatments, vitamins and dietary supplements available to help alleviate symptoms and slow the disease progression. However, the effectiveness of current treatments varies greatly. Our best hope for progressing patient care is funding mitochondrial disease research and clinical trials.
1,000 to 4,000 children in the U.S. each year are born with a mitochondrial disease.
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Financial gifts to the UMDF support programs to progress mitochondrial disease treatments.