Mitochondrial Disease: an Invisible Illness

Mitochondrial Disease shares so many of the symptoms of Fibromyalgia and CFS/ME that some researchers suspect it may be a contributing or underlying cause.  Patients certainly go through the same travails as others with “invisible illnesses”

About Mitochondrial Disease – Mito FAQ | Mitochondrial Disease Action Committee – MitoAction from

What are Mitochondria?

  • Mitochondria are tiny organelles found in almost every cell in the body.
  • They are known as the “powerhouse of the cell.”
  • They are responsible for creating more than 90% of cellular energy.
  • They are necessary in the body to sustain life and support growth.
  • They are composed of tiny packages of enzymes that turn nutrients into cellular energy

Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die there is organ failure.

Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.

Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.

There are many forms of mitochondrial disease.

Mitochondrial disease presents very differently from individual to individual.

Mitochondrial disease is inherited in a number of different ways

There may be one individual in a family or many individuals affected over a number of generations.

The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.

An individual can become symptomatic at any time in life despite the fact that it is inherited.

Families are continuously forced to expend their very limited energy to explain their disease, advocate for themselves and fight for services.

Mitochondrial disease is often an ” invisible disease.”

Good day – patients look fine and healthy. They have more energy and appear rested.

Bad day – – patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated “bad days”often lead to decompensation and patients have difficulty returning to baseline.

Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.

Difficulties establishing a diagnosis interfere with a patient’s ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.

It is difficult to diagnose.

What is Mitochondrial Disease – The United Mitochondrial Disease Foundation from

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells.

Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth.

When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection

Energy Factories and Much More

Cells cannot even make the RNA and DNA they need to grow and function without mitochondria

In the liver, mitochondria are specialized to detoxify ammonia in the urea cycle

Mitochondria are also required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification

They do all this in addition to breaking down (oxidizing) the fat, protein, and carbohydrates we eat and drink.

Defining Mitochondrial Disease

Mitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria

Mitochondrial disease symptoms from Wikipedia

Symptoms include:

  • poor growth,
  • loss of muscle coordination,
  • muscle weakness,
  • visual problems,
  • hearing problems,
  • learning disabilities,
  • heart disease,
  • liver disease,
  • kidney disease,
  • gastrointestinal disorders,
  • respiratory disorders,
  • neurological problems,
  • autonomic dysfunction and
  • dementia.

The severity of the specific defect may also be great or small. Some minor defects cause only “exercise intolerance“, with no serious illness or disability.

Defects often affect the operation of the mitochondria and multiple tissues more severely, leading to multi-system diseases.

Mitochondrial diseases as a rule are worse when the defective mitochondria are present in the muscles, cerebrum, or nerves, because these cells use more energy than most other cells in the body.

The Mito Cocktail Explained

Mito Cocktail” is the name given to a variety of vitamins and supplements which are commonly used by adults and children who have been diagnosed with mitochondrial disease. While there is no cure for mitochondrial disease,

The supplements and vitamins used by Mito patients are often high doses and could require a patient to take up to 50 different pills per day. A compounding pharmacist (find one in your area through the IACP, International Academy of Compounding Pharmacists) can create a “cocktail” in a liquid, capsule or other form that combines the pure powdered form of the prescribed supplements and vitamins. The final medication is usually a much smaller amount than if otherwise taken

The exact compound, including dosage and ingredients, is determined by the patient’s physician and differs depending on an individual Mito patient’s diagnosis, clinical symptoms, weight.

For more information about Mitochondrial Dysfunction:
Mitochondrial Dysfunction Links

See also: Invisible Illness leads to Psych Ward

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  1. Pingback: Top 15 posts of 2016 – 5 Warnings | EDS and Chronic Pain News & Info

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