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An Overview of Management

There is no simple way of simply increasing the capacity of the cell to generate energy.

Treatment then demands attention to aspects of care that can increase or promote energy production and mechanisms for reducing energy losses (Chinnery, 2003).  Special recommendations are necessary for school and the workplace.  Regular monitoring is also important for documenting progression of the disease, allowing (often effective) intervention to occur.



1.      Adequate nutrition. Patients with mitochondrial disease who are not well-nourished may experience significant fatigue and weakness, and may appear as if their underlying disease is accelerating in its progression.  Adequate calories and nutrition can dramatically improve a patient's overall clinical state;

2.      Adequate sleep. During sleep, energy production continues and consumption is reduced.  Therefore, it is essential that the quality of a person's sleep be maximized.  People who don't sleep well often wake tired or exhausted and remain fatigued through the day.  When a sleep disturbance is present, improving sleep is a correctible component of fatigue.

Sleep disturbances are a complication among patients with mitochondrial disease (Sembrano, 1997; Yasaki, 2001).  Central apnea likely occurs in more advanced disease.  However, more common is obstructive apnea due to muscle hypotonia or weakness.  Clues include snoring or mouth-breathing, restlessness during sleep, and not waking refreshed in the morning.  The presence of tonsils and adenoids can aggravate any upper airway obstruction, especially in children;

3.      Promoting activity. People who exercise and are active show an improvement in stamina.  Mitochondrial function improves with regular exercise; even mitochondrial disease patients can gain benefit from regular exercise (Mahoney, 2002; Jeppesen 2006).  To maximize energy production, mitochondrial patients must remain active, though exhaustion should be avoided.  This generally means regular activity with resting periods.  Patients are encouraged to test their limits to know what they are capable of and then to exercise responsibly.  Children may need to be supervised to determine how much exercise is appropriate.  Even passive exercise is beneficial.  Goals for physical or occupational therapy should emphasize maintaining muscle tone, mobility and flexibility, and a slow increase in exercise tolerance; achieving a "normal" level of endurance is unrealistic;

4.      Supplementation with certain vitamins and cofactors (Marriage, 2003). The use of vitamins and cofactors is considered standard of care for mitochondrial disease.  Coenzyme Q10 participates in the normal functioning of the respiratory chain, transferring electrons from complexes I and II to complex III.  It may also stabilize the complexes and serves as an antioxidant to clear free radical accumulation, believed to contribute to the pathogenesis in mitochondrial disease.  Multiple studies have documented improvement, clinically and biochemically, in patients with mitochondrial disease (Shoffner, 2001B).  By report, coenzyme Q10 appears to improve stamina and reduces fatigue.  It has few if any side effects, although at a high dose for a given individual, can cause agitation and/or hyperactivity (treatable by cutting back the dose), and elevated CPK levels are suspected (Kendall, 2007).  If administered late in the day or at night, it may disrupt sleeping patterns; this can be remedied by administering the second day's dose earlier in the afternoon, or by providing the full day's dose in the morning.

L-carnitine may improve stamina and reduce weakness, and reduce muscle cramping

and headaches.  Its side effects include a fishy odor (present in only some at high doses) and loose stools (again at high doses) although this can be a beneficial effect in patients who tend toward constipation; both effects can be reduced by cutting back on the dose.  Creatine may be beneficial to mitochondrial function; supplementation can help with stamina and improve muscle pain.

Vitamins E and C are anti-oxidants (like coenzyme Q10).  Anti-oxidants help to clear free radicals, believed to accumulate in the respiratory chain and contribute to the pathogenesis of mitochondrial disease (Eleff, 1984; Peterson, 1995; Bakker, 1993).  Vitamin B2 or riboflavin may be helpful in certain mitochondrial diseases, and can be an effective anti-migraine agent in some (Schoenen, 1988; Yee, 1999; Wyderski, 2002); young infants may not tolerate riboflavin which may cause vomiting.  Other potential helpful vitamins include thiamin, vitamin K1 (phylloquinone), and alpha-lipoic acid, depending on the particular defect.

There is no standard "vitamin cocktail;" clinics use different combinations.  In general, however, vitamins should be started one at a time to allow observation of any benefit or adverse reaction; sometimes the benefit is not noticed when starting the supplement but instead observed when the supplement is withdrawn.  In patients with disturbed gastrointestinal motility, taking an excess of vitamins may not be possible; this is also true in some younger children.  Compounding the vitamins together may aid in this effort.



1.      Prevention of infections. Patients with mitochondrial disease frequently do not tolerate infections well; these may cause prolonged and often debilitating fatigue and weakness.  As a result, these patients should be kept up-to-date as far as their vaccinations are concerned, and are good candidates for receiving seasonal vaccinations (e.g., influenza).  A small percentage of mitochondrial patients have (often non-specific) immune dysfunction which results in frequent infections and very prolonged periods of fatigue and weakness, significantly impacting their ability to learn.  In these individuals, a formal immune work-up should be performed and consideration given to immunoglobulin therapy; many patients have shown significant clinical benefit on this therapy with acceleration of their development following the initiation of immune therapy simply because they can attend school and/or participate more actively in learning;

2.      Avoiding excessive physical activity. While physical activity is an important component of therapy for mitochondrial disease, "overdoing it" produces no benefit and can leave a patient exhausted, in pain, perhaps nauseous, and feeling miserable.  There may also be a prolonged recovery period lasting the rest of the day or even several days following more intensive exertion.

It is not uncommon for patients with chronic fatigue to do "too much" on days when they are feeling better, only to "pay for it" the following day(s).  Learning to pace oneself is an incredibly important and useful skill to develop.  Teaching to "listen to one's body" can begin in patients with developmental ages of about 8 or 9 years.

3.      Treating emotional distress. It is not hard to understand why excessive physical activity causes fatigue.  What is often overlooked is that frequent or persistent anxiety, depression, or obsessive-compulsive behaviors are also very energy-demanding.  These should be recognized and treated aggressively, freeing up energy and allowing that energy to be redirected to more productive pursuits.  In the same way, hyperactive patients may show an overall improvement with medications that improve attention.

4.      Maintaining a suitable ambient temperature. Patients with mitochondrial disease often don't tolerate extremes of temperature very well, likely due to secondary autonomic dysregulation.  Sweating may be reduced or inappropriate, and spontaneous pallor, flushing, blotching, and/or mottling may occur (without obvious triggers).  Patients may run unusually low body temperatures.  Because patients cannot always regulate well to the temperature in their environment, it is important that that the ambient temperature be monitored and controlled whenever possible.  Trips into hot summer weather or on cold winter days may need to be limited.



Patients with mitochondrial disease may have no cognitive or learning impairment, although that is relatively uncommon.  The majority show learning and/or behavioral problems that are typically unique to an individual child; some are globally delayed, perhaps severely so.  An educational plan should be developed based on the learning and behavioral issues demonstrated by the child, not based on his/her diagnosis.  However, a medical plan is frequently needed to go along with the patient's individualized educational plan (IEP).  These medical guidelines provide help to create a learning environment in which a mitochondrial patient can learn and perform his/her best. These guidelines include -

-pacing a child given his/her easy fatigability, and providing supports that improve energy conservation;

-flexibility in teaching from day to day since children with energy disorders have "good days" and "bad days";

-making sure the classroom is comfortable for learning since many children have difficulty adjusting to cold and heat;

-protecting children when possible from unnecessary infectious exposures since such illnesses can be associated with prolonged and often debilitating fatigue and weakness.

Of note, an educational environment that raises anxiety levels is not the best

choice for a child with an energy disorder since emotional stressors, like

physical demands, drain energy and therefore interfere with learning;



Mitochondrial diseases are typically multi-systemic since all organs are dependent upon energy for their function.  Organ dysfunction should be monitored from time to time since complications are often identifiable and treatable, thereby preventing a patient

from developing symptoms.  Unless a patient has a very specific disease with a predictable phenotype, monitoring of the following organs is generally routine on a 1-2 year schedule:

Blood and Urine Testing

1.      Bone marrow involvement - CBC, WBC differential, platelets;

2.      Liver involvement - AST, ALT, bilirubin;

3.      Kidney involvement - BUN, creatinine (blood); urinalysis, urine amino

acids (quantitative);

4.      Muscle involvement - CPK;

5.      Endocrine involvement - thyroid functions; calcium, phosphorus.  Adrenal insufficiency is a possibility;

6.      Metabolic status - lactate and pyruvate; carnitine and acylcarnitines; leukocyte coenzyme Q10; urine organic acid analysis.

Other Testing

1.      Ophthalmological evaluation.  Screen for visual function if concerned;

2.      Audiology testing.

3.      Cardiac evaluation, including EKG, echocardiogram.

Developmental or neuropsychological testing

Should be performed regularly according to the patient's needs.

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