Mitochondrial Dysfunction

A subset of children with autism are being diagnosed with mitochondrial dysfunction. Mitochondria make the energy to power cells in every part of the body, including the major organs.

Studies have shown that the mitochondria in children with ASD are more susceptible to damage from environmental toxins, such as diesel exhaust particles, which have shown to inhibit mitochondrial function.

Symptoms include developmental regression, large motor delays, growth delays, low muscle tone, fatigue, lack of coordination, and the inability to regulate temperature and more.  Many of these children suffer repeated fevers, illnesses and have trouble fighting infections.  An individual with Mito dysfunction may have heart/kidney problems, liver disease, immune system issues, gastrointestinal issues, seizures, strokes, blindness/deafness, heat/cold intolerance etc.

There are baseline screening tests for mito that can be ordered by any physician, can be done in any mainstream lab, and are usually covered by insurance.  These tests require a blood and urine sample, so they are not invasive. The tests need to be done with overnight fasting (10-12hrs). However, you will need a physician who understands mito/autism to interpret.

The following are the baseline tests:

  • Plasma lactate
  • Plasma amino acids
  • Urine organic acids (Quantitative)
  • Plasma Acylcarnitine panel (Quantitative)
  • Free and total Carnitine
  • Plasma Ammonia
  • Creatine Kinase
  • Baseline levels of Cholestrol, CoQ10, Vitamin E, Vitamin D (if you don’t have recent values)
  • Comprehensive Metabolic Panel
  • Complete Blood Count

Treatment for mito dysfunction includes a cocktail of vitamins/minerals and antioxidants, known as the mito cocktail.  In addition, the parent must ensure the intake of adequate calories.  Increasing oxygen levels to mitochondria has been shown to help some children, so treatment with low atmospheric pressure in a hyperbaric oxygen chamber may help also.

For more information on Mitochondrial Dysfunction, please read this simplified approach.

Additional Sources:

  1. “Has your child with ASD been screened for mitochondrial disease?” –  A perspective written for parents by a parent-advocate, Alyssa Davi
  2. Stories of children with mito and ASD – symptoms, diagnosis and treatment
  3. Powerpoint presentation on Mitochondrial Disease and Autism by Dr.Richard Frye
  4. Website with a collection of resources  – www.mitoaction.org/autism

Advanced Reading on Treatment and Diagnosis

  1. Paper on “Treatments for Mitochondrial Dysfunction associated with Autism Spectrum Disorders” by Dr. Rossignol and Dr. Frye
  2. Paper on new diagnostic approaches in mitochondrial diseases by Kendall – “Mitochondrial Disorders: Overview of Diagnostic Tools and New Diagnostic Trends”

Papers to help your pediatrician or primary care physician

This paper helps your pediatrician or primary care physician understand the symptoms of mito, what tests to order, how to interepret the results and when to refer to a mito specialist.

Paper on mitochondrial disease and autism, by Dr. Rossignol and Dr. Frye

Paper on mitochondrial disease and autism, by Richard Kelley

Mitochondrial Dysfunction and autism

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