Mitochondrial Dysfunction and Autism

Kelly Dorfman, MS, LND writes about nutritional interventions for children with mitochondrial dysfunction and autism.

Mitochondrial dysfunction and autism often go hand in hand. William is a six year old with an autism diagnosis. He made encouraging initial gains with extensive intervention until his progress hit a plateau.

A developmental specialist reassessed him noting that his muscle tone and stamina were unusually low. She recommended a metabolic specialist to rule out mitochondrial dysfunction.

What Are Mitochondria?

Each cell contains tiny organelles called mitochondria. The job of the mitochondria is to provide the chemical energy the cell and body needs to operate. The cell cannot use sugar or fats directly. Partially broken down fats and carbohydrates must be converted into adenosine triphosphate (ATP), the cell’s main source of energy.

What Is Mitochondrial Dysfucntion?

Children with significant low tone may have mitochondrial dysfunction. Aggressive antibiotic use, heavy metals and pesticides can all injure the mitochondria. The DNA of the mitochondria is separate from and more fragile than the DNA found in the nucleus of the cell.

Common environmental toxins can damage the DNA of the mitochondria altering the cell’s future ability to produce energy. The result is loss of muscle tone and stamina. In mitochondrial dysfunction, muscle tone is low so youngsters need to search for ways to stabilize soft muscles. They may be restless because a comfortable resting position cannot be found. Teachers may complain of poor attention span when in reality the child is chronically distracted by body discomfort.

In rare cases, a child may have one of a limited number of identified mitochondrial defects. The known disorders can only be diagnosed by muscle biopsy and are characterized by serious symptoms (such as an inability to walk). A vast majority of those with low tone suffer from inefficiency, not disease.

Because a partial diagnosis does not exist, a painful biopsy is unlikely to provide useful information except in extreme cases.

Disease Versus Dysfunction

Some mitochondria are more efficient than others because of the influence of different environmental and genetic factors. Well-functioning mitochondria create readily available and sustained energy resulting in toned and well-formed muscles. When these muscles are exercised, they get stronger steadily and predictably.

Whether a child has a known mitochondrial disorder or dysfunction, the only treatment is nutritional. Many nutrients are critical for mitochondrial function but there is a basic cocktail that addresses the most important components.

The Mitochondria Cocktail

Vitamin B-1 and/or B-2

Thiamine (vitamin B-1) and riboflavin (vitamin B-2) are both required co-factors for different parts of energy making. The last step of energy making involves converting ADP (adenosine diphosphate) to ATP.

This step happens down a chain of five protein complexes named Complex I, II, III, IV and V, respectively. Complex I requires vitamin B-1 to stimulate its enzymes. Both Complex I and II require vitamin B-2.

Some children do well with thiamine but get irritated with riboflavin and vice versa. In other cases, both B-vitamins plus B-3 (as niacinamide) are necessary.

Because it is hard to know what to support (without a specific diagnosis), the B-vitamins should be added one at a time. The problem area can be pinpointed by observing the response to intervention. Some children will have a clear response to one B-vitamin or may need them all.

A typical mitochondria formula may contain 50-100mg each of vitamins B-1, B-2 and/or B-3. Keep in close contact with the supervising medical professional and adjust the B-vitamins if the child becomes agitated.

Vitamin E (Mixed Tocopherols)

The mitochondria must be protected against damage from destructive molecules called free radicals. These volatile substances are a normal by-product of metabolism but a healthy body has the capacity to clean them up. When too many get into the mitochondria, they damage the membrane and disrupt energy production.

Vitamin E is an important anti-free radical agent for protecting and healing these membranes. The dose range used is 100-400IU.

Vitamin E is well tolerated, and it has no known toxicity. Natural vitamin E is usually derived from wheat or soy. In rare cases, this may cause allergic problems.

Acetyl-L-Carnitine (ALC)

Carnitine is a simple protein made up of the amino acids methionine and lysine. Research suggests that carnitine helps maintain the membranes of the mitochondria. In addition, ALC helps facilitate the transport and utilization of fats so they can be used to make energy.

For mitochondrial disorders, ALC or the prescription version, Carnitor, is dosed at 50 to 100 mg per kg of body weight. It can sometimes cause irritability or stomach distress but is not toxic.

Bottom Line

The mitochondria can be more efficient if they are fed properly. Healthy mitochondria provide the sustained energy necessary for optimal growth and development.

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