Understanding & Navigating Mitochondrial Disease

We All Have Mitochondria.

Mitochondria exist in nearly every cell of the human body. It’s responsible for creating 90% of the energy you need to sustain life and support organ function.

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.

Brain

developmental delays, dementia, migraines, autistic features, seizure, stroke, atypical cerebral palsy, learning disabilities

Muscles

weakness/failure, cramping, reflux, vomiting, constipation, diarrhea, hypotonia, dysmotility

Nerves

fainting, zero reflexes, heat/cold intolerance, pain

Pancreas

diabetes, pancreatic failure, parathyroid failure

Kidneys

renal tube failure

Heart

defects, blockage, cardiomyopathy

Liver

low blood sugar, liver failure

Eyes

vision loss, ptosis, optic atrophy, strabismus, ophthalmoplegia, retinitis pigmentosa

Ears

hearing loss

Systemic

failure to gain weight, fatigue, short stature, unexplained vomiting, respiratory problems

Getting a Diagnosis

According to the Mitochondrial Care Network, a correct diagnosis is difficult because many common conditions have been linked to unhealthy mitochondria. Generally, a neurologist or geneticist will raise a concern and suggest testing for mitochondrial disease.

A cardiologist or endocrinologist may also suspect the disease. A list of medical centers that have experience in mitochondrial disease diagnosis and testing can be found through the Mitochondrial Care Network.

Testing for mitochondrial disease typically includes:

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Blood and urine to check levels of amino acids, acylcarnitines, lactate, pyruvate and urine organic acids

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DNA testing

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Muscle biopsy typically taken from the thigh

Learn More about a Diagnosis

Read the “Diagnosis and Management of Mitochondrial Disease” article.
View the Paper →

Find a Doctor

UMDF maintains a list of 200+ doctors treating and researching mitochondrial disease.
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Mitochondrial Care Center: New Patient Guide

A helpful toolkit for patients, families and caregivers.
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Types of Mitochondrial Disease

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.

FAQ

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

Access videos, articles and resources to better navigate your journey.

Progressing Patient Care

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.

Join mitoShare: Mitochondrial Disease Registry

Help advance progress towards better diagnosis, treatments and cures.

Enroll in a Clinical Trial to Help Fuel Research for a Cure

See if you’re eligible to participate in clinical studies.

Raise Research Funds to Find More Effective Treatments

Financial gifts to the UMDF support programs to progress mitochondrial disease treatments.

Connect with the UMDF Support Team

UMDF is here to answer questions, provide helpful resources and offer caring support.