Testing for Mitochondrial Disease Disorders

Mitochondrial disorders are disorders in which the body lacks the ability to produce adequate energy to perform all of its functions. The body systems most dependent on this energy are the brain, muscle, heart, kidneys and liver. Affected individuals often have many problems that can include developmental delays, seizures, weak muscles, and many other difficulties such as heart problems and liver disease.

In order to diagnose whether or not you or your child has mitochondrial disease, health care providers must do tests on a tissue that has many mitochondria located in it. Such a tissue is muscle.

About Muscle Biopsy Testing - A small piece of muscle, usually the size of the end of our little finger is removed from the upper thigh of a patient for this testing. (The removal of this small piece of tissue does not cause permanent damage to the patient but does leave a scar several inches long.)

The testing completed on this muscle tells us whether or not a certain person can produce enough energy to function normally or whether or not he/she has a problem making too little energy. The testing is complicated and takes many weeks to complete.

Test Results - If the testing indicates that a given patient does indeed have a mitochondrial disorder, that person is then screened every year for many associated problems found with these diseases (such as diabetes and thyroid disease). This helps us prevent many of the treatable complications of these disorders.

There are also some treatments for mitochondrial disorders; these treatments include the use of a special diet in about 30% of patients. The use of this diet has enabled some children to show considerable improvements in their medical condition.

Click here to learn more about vitamin and supplemental information.

Unfortunately, some patients with mitochondrial disorders are so sick with so many problems that making a diagnosis for them merely enables their parents, families and medical care providers to choose more wisely when considering painful or complicated procedures or tests that will likely not improve their life.

Often when a patient is that sick doing nothing but supportive care is the best thing to do.

Finally, knowing that a given child has one of these disorders enables their parents to make decisions about future children since these couples face a 25% up to 100% recurrence risk for having a similarly affected baby for each and every child they have.

Click here to learn more about metabolic and molecular genetic testing.

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To learn more about living with mito disease, visit LIVING WITH MITOCHONDRIAL DISEASE.