Treatment

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Physicians specializing in metabolic diseases have found that every child and adult is biochemically different, meaning that no two people will respond to a particular treatment in a specific way, even if they have the same disease. Therefore, treatment is individualized for each patient, symptoms, and type of mitochondrial disease.

Mitochondrial patients may become ill more quickly and more severely than other people because of a lower cellular reserve of energy. Cellular stresses, such as illness, fatigue, or poor nutrition, may lead to cell injury and associated worsening of baseline symptoms or the onset of new symptoms.

Exercise 

Research has shown that both endurance (such as running) and resistance (such as weight lifting) exercise can benefit patients with mitochondrial disease. Some benefits include an increase in mitochondrial health, antioxidant and muscle mitochondrial enzyme activity, oxygen uptake, and muscle strength, as well as improved clinical symptoms and a decrease in resting and post-exercise blood lactate levels. 

The majority of research has shown exercise that is slowly increased can be safe for patients with mitochondrial diseases. Exercise should begin with short duration and low intensity. Exercise intolerance is common with mitochondrial disease, but even patients who have a difficult time exercising should still be encouraged to exercise beginning at their current level of function. Patients should consult their physician before beginning to exercise as cardiac or other evaluations may be needed. Physicians may recommend supervised progressive exercise aimed at improving function.

Treatment During Illness 
  • Carry an emergency care plan that explains the disorder and management recommendations.
  • Wear a Medic Alert bracelet or similar device.
  • Take precautions to prevent prolonged fasting, including IV hydration for prolonged vomiting or other GI issues or fasting prior to procedures.
  • IV hydration and/or lipids may be necessary for acute decompensation (organ failure from functional overload).
Vitamins and Supplements Prescribed Typically Include:
  • Coenzyme Q10 – ubiquinol preferred 
  • Alpha lipoic acid
  • Riboflavin and possibly other B vitamins
  • Arginine – for stroke-like events
  • Folinic acid – only routine for documented CSF deficiencies and diseases known to cause deficiency and considered with central nervous system manifestations
  • L-carnitine – for carnitine deficient patients only
  • Vitamin C – for intercurrent illness supplement
  • Diet therapy, as prescribed by your doctor along with a registered dietitian, may be recommended.

Important: A physician should always guide specific treatments. Patients should not take any supplements or try any treatment unless prescribed by a doctor.