What is Mitochondrial Disease and how is it treated?

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Sep 18, 2020 | Health Information

Being diagnosed yourself, or having someone close to you diagnosed with a rare disease is an understandably frightening experience. When it comes to navigating the beginning stages of treating a rare disease, knowledge is power. Understanding it is the first step in conquering it.

Mitochondrial diseases are disorders that occur when the structures that produce energy for a cell fail. Essentially, the mitochondria no longer produce the energy they need to in order for the cell to live, resulting in cell failure and eventually death. When this happens long enough, organs themselves begin to fail. These diseases are believed to be inherited. Symptoms might include developmental disabilities such as muscle weakness, poor growth and learning disabilities. Because symptoms vary from patient to patient, mitochondrial diseases are difficult to diagnose.1

Mitochondrial disease covers a wide range of disorders, deficiencies and syndromes. Although all mitochondrial diseases are rare, Leigh syndrome and MELAS syndrome are the most common types. There is currently no cure for mitochondrial disease, but medications, physical therapy and medical foods can be used to manage symptoms.2

Treatment for mitochondrial disease is heavily dependent on which type of disease the patient has been diagnosed with and what symptoms they show. In treatment, the goals are to alleviate symptoms and delay the progression of the disease. This article will explain the different types of therapy currently by medical professionals used to manage MD.3

Diet Therapy

It may be important for individuals with MD to (1) Avoid fasting. It is best for those with mitochondrial disease to eat throughout the day as opposed to having only a few bigger meals. (2) Adopt a ketogenic diet. This diet is low in carbs and high in fat. It is beneficial in the management of mitochondrial diseases because it has shown promise in reducing epilepsy episodes.4

Physical and Speech Therapy

Many mitochondrial diseases reduce an individual’s mobility. Physical therapies can play a role in reducing symptoms from strokes, muscle weakness, and development delays. Safe exercise that is sometimes recommended for patients who experience physical disabilities from mitochondrial diseases. It is important that any form of physical therapy or exercise is recommended from your physician. Speech therapy may also be helpful if the individual is suffering from cognitive or physical disabilities.5

Nutritional Supplements

There are a host of nutritional supplements that may play a role in managing mitochondrial diseases. These supplements are typically recommended by physicians when there is a nutritional deficiency found.

Alpha Lipoic Acid

Alpha Lipoic Acid is an organic compound within mitochondria. It acts as an antioxidant. Research has shown ALA may assist in helping individuals with mitochondrial cytopathies manage their symptoms. Food sources with ALA include spinach, broccoli and potatoes. It has shown some clinical promise in helping patients with Persistent Mullerian duct syndrome (PMDs) manage their symptoms.6


CoenzymeQ10 (CoQ10). CoQ10 in its reduced form, ubiquinol, acts as an antioxidant. It is a natural substance found in the body and some foods, including fish, meats, and whole grains. Ubiquinol is made naturally by the body and it exists in every cell. Protecting mitochondria and DNA from oxidative damage.

There are numerous conditions where ubiquinol may assist in the dietary management of mitochondrial disease. These include, heart failure, cardiovascular disease, and high blood pressure. Today, it is commonly purchased as a dietary supplement.6


Citrulline is an amino acid found in some foods, but mostly produced by our own bodies. As a medical food, it is primarily used to help manage symptoms of MELAS syndrome. As a dietary supplement, it is used to promote heart health.6

Creatine Monohydrate

Creatine monohydrate has been shown to have a positive effect on patients with mitochondrial diseases. For example, creatine monohydrate powder can be used in the dietary management of creatine metabolism disorders.6

Vitamin B1 (Thiamin)

Vitamin B1 may be helpful in managing Thiamine-Responsive Disorders. It is found in foods such as meat, whole grains, and fish. It is often sold as a dietary supplement as well. More research is needed to determine efficacy in treating patients with other mitochondrial diseases.6

Vitamin B2 (Riboflavin)

Vitamin B2, also known as Riboflavin, is a vitamin that may be helpful for some mitochondrial disease. It is primarily used to help manage glutaric acidemia, also known as glutaric aciduria.6

As research continues, more information on mitochondrial diseases and how they function are being understood. At Solace Nutrition, we are committed to providing safe and reliable medical foods for the Mito community. Our Cyto line is the only complete range on the market with twelve different formulas that address various needs for those with mitochondrial disease.


  1. “Mitochondrial Disease FAQ’s – Learn More | Mito Action”. Mito Action, 2020, https://www.mitoaction.org/mitochondrial-disease/faq/. Accessed 27 Aug 2020.
  2. “Diseases – MM – Types Of Overview | Muscular Dystrophy Association”. Muscular Dystrophy Association, 2020, https://www.mda.org/disease/mitochondrial-myopathies/types. Accessed 27 Aug 2020.
  3. Umdf.Org, 2020, https://www.umdf.org/what-is-mitochondrial-disease/treatments-therapies/. Accessed 27 Aug 2020.
  4. Rinninella, E., Et al “Nutritional support in mitochondrial diseases: the state of the art”. European Review for Medical and Pharmacological Sciences, vol 22, (2018) pg. 4288-4298. Europeanreview.org. Accessed 27 Aug 2020.
  5. Millhouse-Flourie, Tracey J. “Physical, Occupational, Respiratory, Speech, Equine And Pet Therapies For Mitochondrial Disease”. Mitochondrion, vol 4, no. 5-6, 2004, pp. 549-558. Elsevier BV, doi:10.1016/j.mito.2004.07.013. Accessed 26 Aug 2020.
  6. Ods.od.nih.gov. 2020. Office Of Dietary Supplements – Dietary Supplements For Primary Mitochondrial Disorders. [online] Available at: <https://ods.od.nih.gov/factsheets/PrimaryMitochondrialDisorders-HealthProfessional/>. Accessed August 26 2020.