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Riley Children's Health

Mitochondrial Disorders

Mitochondrial Disorders
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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

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

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

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

Locations

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.

Riley Outpatient Center at IU Health

Medical & Molecular Genetics
575 Riley Hospital Dr
Indianapolis, IN 46201

317.944.3966

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Riley Physicians Pediatrics

Medical & Molecular Genetics
4935 W Arlington Rd
Bloomington, IN 47404

317.944.3966

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Departments Treating This Condition

Departments Treating This Condition

  • Medical & Molecular Genetics

Related Stories

Related Stories

Blog Oconner Web

Brothers in arms fight the same crushing disease

01/12/20 Patient Stories

Keegan and Maddox O’Connor battle mitochondrial disease, a rare disorder that has no cure. But their love for each other and their family gives them a special kind of strength.

Continue reading

View the Riley Connections Blog

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