Mitochondrial Disorders

Mitochondria are small, energy-producing structures in cells. The mitochondria are sometimes called the power plants of cells because they produce most of the energy your body needs to function. A mitochondrial disorder occurs when there is damage to the mitochondria, which depletes the cells’ energy.

Mitochondrial disorders vary in severity and age of onset from one person to the next. They can present at any point in life, though they generally first cause symptoms in childhood. If your child has a mitochondrial disorder, the brain, muscles and gastrointestinal (GI) tract will most likely be affected because each of these body parts require high amounts of energy to function properly, though virtually any organ system can be affected. Mitochondrial disorders may be inherited in a number of ways, but the exact pattern in a given family may be difficult to determine.

Some symptoms of mitochondrial disorders include:

Abdominal distention
Blindness
Cardiomyopathy
Deafness
Dementia
Developmental delay
Feeding problems
Frequent infections
Heart rhythm problems
Increased fatigue
Low muscle tone
Migraine headaches
Muscle weakness
Nausea
Seizures
Severe constipation
Sleep apnea
Stroke-like symptoms
Trouble moving the eyes
Vomiting

Patients do not typically experience all of these symptoms. The most common symptoms are fatigue, low muscle tone, developmental delay and GI problems.

Diagnosis of Mitochondrial Disorders

The following exams and tests may be used to help determine if your child has a mitochondrial disorder:

Physical exam
Blood tests to determine elevated lactic acid or other biochemical abnormalities
Specific mitochondrial and/or nuclear gene testing
Magnetic resonance imaging (MRI) scan of the brain
Electrocardiogram and echocardiogram
Eye exam
Neurological evaluation
Hearing test

Treatments

There is no cure for mitochondrial disorders. However, treatment may help reduce symptoms and slow down the long-term decline in health. Your child's doctor may recommend avoiding certain types of medicines that may increase symptoms, such as sedation medication. In addition, supplements such as carnitine and/or coenzyme Q are often prescribed to help control the symptoms caused by a mitochondrial disorder. Doctors hope to improve a patient's quality of life by managing symptoms with these treatment methods.

Key Points to Remember

A mitochondrial disorder occurs when there is damage to the mitochondria which depletes the cells’ energy and, therefore, depletes the body’s energy.
Most mitochondrial disorders affect the brain, muscles and GI tract, but other organs can be affected.
There is no cure for mitochondrial disorders. However, treatment with certain medicines may help improve symptoms.

Support Services & Resources

Visit the following websites to learn more about how mitochondrial disorders are diagnosed and treated.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Genetics Home Reference

This online resource from the U.S. National Library of Medicine provides more information about mitochondrial disorders.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation offers support and information and promotes research for the cure and treatment of mitochondrial disorders.

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.

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