Mitochondrial Disorders

Almost every cell in the human body has mitochondria: tiny powerhouses that turn sugar and oxygen into the energy that cells need to perform their work.

In mitochondrial diseases, the mitochondria cannot turn sugar and oxygen into energy efficiently, so the body’s cells do not perform as-needed.

Mitochondrial diseases can affect one or many different parts of the body — the brain, kidneys, muscles, heart, eyes, ears, and others — in many different degrees of severity because there are many different types of mitochondrial diseases.

Not everyone with a mitochondrial disease will show symptoms. However, when discussing the group of mitochondrial diseases that tend to affect children, symptoms usually appear in the toddler and preschool years.

Is there a relationship between mitochondrial disease and autism?

According to the Center for Disease Control (CDC), a child with a mitochondrial disease:

  • may also have an autism spectrum disorder,
  • may have some of the symptoms/signs of autism, or
  • may not have any signs or symptoms related to autism.

A child with autism may or may not have a mitochondrial disease. When a child has both autism and a mitochondrial disease, they sometimes have other problems as well, including epilepsy, problems with muscle tone, and/or movement disorders.

More research is needed to find out how common it is for people to have autism and a mitochondrial disorder. Right now, it seems rare, but research is showing that autism may have many smaller subgroups, so investigating the impact of mitochondrial disorders in autism may help alleviate a small percentage of the ASD population. If we work at understanding autism piecewise, instead of by generalizing “ASD as a whole”, we have a better chance of interpreting and defining this complex disorder.

theautismresearchfoundationMitochondrial Disorders