Mitochondrial Dysfunction

The following symptoms may indicate that your child has mitochondrial dysfunction or a problem in energy production.

• Large motor delays
• Failure to thrive, growth delays
• Low muscle tone
• Extreme fatigue
• Inability to regulate temperature
• Autistic symptoms
• Global muscle weakness
• Difficulty waking

Even if your child does not display any of the “classic” symptoms of mitochondrial dysfunction (listed above), your child may still be affected.

It is now believed by many research scientists and an increasing number of physicians that mitochondrial dysfunction may be a critical part of the underlying pathophysiology in the following health conditions:

• Autism
• Bipolar disorder
• Schizophrenia
• Depression
• Diabetes
• Parkinson’s disease
• Asthma
• Chronic fatigue syndrome
• Alzheimer’s disease
• Some gastronintestinal disorders, among others

Click here (Mito Dysfunction in Health Conditions) to download an overview of the recent medical literature linking mitochondrial dysfunction to many well known illnesses.

What is mitochondrial dysfunction?

Mitochondria are the “power plants” of the body.  They make the energy to power cells in every part of the body, including the major organs requiring significant amounts of energy to function properly.

The organs in the body that require the most energy are the brain, muscles, liver, kidneys, gastrointestinal tract, heart and lungs. Mitochondrial disease or mitochondrial dysfunction is what occurs when the mitochondria are not able to do their job due to genetic or environmental factors.

When the mitochondria are not working properly, a whole host of symptoms may appear.  According to the UMDF (United Mitochondrial Disease Foundation),  an affected individual may have:

• Strokes
• Seizures
• Gastrointestinal problems (reflux, vomiting, constipation, diarrhea)
• Swallowing difficulties
• Failure to thrive
• Blindness
• Deafness
• Heart and kidney problems
• Muscle failure
• Heat/cold intolerance
• Diabetes
• Lactic acidosis
• Immune system problems
• Liver disease

An undiagnosed child may exhibit feeding problems, be unable to fight typical childhood infections or have repeated infections and fevers without a known origin.  A “red flag” for mitochondrial disease is when a child has more than 3 organ systems with problems or when a “typical” disease exhibits atypical qualities.

How do I know if my child has mitochondrial dysfunction?

There are certain blood tests that may indicate that a child has mitochondrial dysfunction.  Ask an integrative or holistic physician or practitioner to look for the following “red flags” in laboratory blood work:

• Elevated ammonia, alanine, alanine/lysine ration 3, glysine, proline, tyrosine, sarcosine, lactate/pyruvate ratio, acyl:free carnitine ratio, elevations suggesting disruptions in fatty acid oxidation
• Reduced free and total carnitine
• Irregular urine organic acid screening-TCA intermediates, ethylmalonate, 3-methylglutaconate, dicarboxylic acids, methylmalonic acid

OR consider seeing a geneticist who specializes in mitochondrial disease.

List of Mitochondrial Disease Doctors/Specialists (with hospital affiliation) can be found at:  http://www.mitosoc.org/blogs/diagnosis/providers

What is the connection between mitochondrial dysfunction and autism spectrum disorders?

• Mitochondrial dysfunction in Autism Spectrum Disorders: cause or effect? published in Biochimica et Biophysica Acta, May 2010.
• Mitochondrial dysfunction and autism from MitoAction.org
• How Environmental Factors May Cause Mitochondrial Dysfunction (and contribute to chronic illnesses including autism):  Environment Affects Mitochondria
• ASD Secondary to Mito
• Autism and Mitochondrial Dysfunction: Medical Literature compiled by Autism Research Institute

For More Information:

• Join MitoAction every 2nd Tuesday of the month at 12:30 EST to participate in a discussion regarding mitochondrial dysfunction and autism.  Call in to the conference call by phoning 1-866-414-2828 and enter code 017921# at the prompt
• Information for Primary Care Physicians about how to recognize and screen for OXPHOS, a newly emerging category of ASD that involves mitochondrial dysfunction.
• Evaluation and Treatment of Patients with Autism Secondary to Mitochondrial Dysfunction by Dr. Richard Kelly of the Kennedy Krieger Institute

Other Websites of interest:

The Mitochondrial Medicine Society
www.mitosoc.org

Mito Action
www.mitoaction.org

The United Mitochondrial Disease Foundation (UMDF)
www.umdf.org

The Mitochondria Research Society website-
www.mitoresearch.org

Mitochondrial Disease Blog–www.mitoblog.org

Resources for Physicians

Mitochondrial Disease: A Practical Approach for Primary Care Physicians
http://pediatrics.aappublications.org/cgi/content/full/120/6/1326

Clinicians Guide to the Management of Mitochondrial Disease: A Manual for Primary Care Providers
http://www.mitoaction.org/guide/table-contents

Mitochondrial and Metabolic Disorders- A Primary Care Physician’s Guide
http://biochemgen.ucsd.edu/mmdc/ep-toc.htm

Dr. Mark Korson, Chief of the Metabolic Program at Tufts New England Medical Center , speaks about Mitochondrial Disease and Patient Challenges (5 minute video)
http://www.youtube.com/mitoaction#play/all/F38FD8F6D9124E1B-all/1/-zf3eYRGpko

Think Mitochondria, (1997) Mitochondrial Evaluation Worksheet can be found at .www.umdf.org page 13
http://www.umdf.org/atf/cf/%7B858ACD34-ECC3-472A-8794-39B92E103561%7D/think_mitochondria.pdf

Related OXPHOS articles

Mitochondrial Dysfunction May Play a Role in Autistic Spectrum Disorders Etiology
http://www.medscape.com/viewarticle/573004

Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2584230

Oxidative Phosphorylation (OXPHOS) Defects in Children with Autistic Spectrum Disorders
http://www.abstracts2view.com/aan2008chicago/view.php?nu=AAN08L_IN1-1.004

Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression
http://www.ncbi.nlm.nih.gov/pubmed/19773461

Mitochondrial Dysfunction in Autism Spectrum Disorders: A Population Based Study
http://www.ncbi.nlm.nih.gov/pubmed/15739723?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVBrief

Relative Carnitine Deficiency in Autism
http://www.ncbi.nlm.nih.gov/pubmed/15679182

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This document is not a substitute for medical advice, treatment, diagnosis, or consultation with a medical professional.  It is intended for general informational purposes only and should not be relied on to make determinations related to treatment of a medical condition.  Epidemic Answers has not verified and does not guaranty the accuracy of the information provided in this document.