THERAPY

At present there is no effective treatment for mitochondrial diseases, however, thanks to fervent scientific research, some therapeutic approaches are emerging and they are part of clinical trials involving the use of vitamin cofactors as well as a gene therapy.

Nevertheless, it is crucial to undertake timely a therapy to:

The effectiveness of therapy can change from patient to patient, depending on the enzymatic deficit and on the severity of symptoms. Generally, patients with a milder clinical presentation respond better to therapy than patients with more severe pictures.
In some patients the treatment has to be customized to be effective. Other patients have no benefits from any therapy, but at least the progression of the disease can be slowed down. However, no therapy can do anything to improve irreversible damages that the patient already had (eg brain damages) when the therapy started.

The key points of the therapy are:

Treatment must then be customized by the physician according to patient needs.

Diet
The diet should be prescribed by a specialist in metabolic diseases only. Taking personal initiatives or making any changes without consulting the specialist may be harmful. Substances useful for certain diseases can be contraindicated for others .

Fasting should be avoided: this is perhaps the most important thing to keep in mind. Fasting means we donít provide our cells with the "fuel" which is essential if we are suffering from an energy deficit. Even the "night" fasting (from 20 to 8) can be dangerous in some patients. Do not try to lose weight by reducing the amount of food. Even normal flu symptoms (vomiting, lack of appetite etc.) can be dangerous: it is always better to get in touch with a specialist when such symptoms appear. In young children, it is often useful parenteral feeding at night in order to avoid energy loss.

Frequent meals are preferable to the "classic" three meals a day. Before going to bed, it is helpful to have a snack eating complex "slow-release" carbohydrates. Cornstarch would be the ideal choice but it is not very tasty. Anyway, pasta or rice should be preferred over sweets.

Scientific community is still debating the use of high-fat meals instead of carbohydrates when dealing with patients with a lack of OXPHOS. Some patients are fine with this kind of diet while others see their symptoms worsen. MCT oil (medium chain triglycerides) can be useful since it is easier to digest than other long-chain oils (olive, seeds, etc.) and it is lighter than butter.

Vitamins and co-factors
Both vitamins and cofactors are essential for all biochemical reactions that occur in our bodies but, while we are able to "build" the cofactors, eating is the only way we have to take vitamins. Normally, a rich and balanced diet allows us to take all the vitamins we need. Patients with mitochondrial disease may need to add vitamins and cofactors to their diet, although their effectiveness has not been proved yet and their use is still debated among clinicians.In OXPHOS defects, coenzyme Q10 is widely used.However, using these compounds can increase the enzymatic activity in such a way so that energy production is more effective.

Here after is a list of the compounds used in mitochondrial diseases that must be taken only under the supervision of the specialist:


Damages arising from "Stress"
Since muscle pain and weakness are one of the most disabling symptoms in adults, exercise and physical therapy are an important therapeutic strategy. Also in this case, phisical exercises must be suggested by a specilist since they may have different consequences from individual to individual and, in general, it is important to refer to a specialized center.

Damages arising from "Stress"
  1. Stress from low temperatures: the regulation of body temperature is not always effective in patients with mitochondrial diseases. Exposure to low temperatures can cause heat-loss resulting in metabolic crisis. As a consequence, it is important to dress warmly during the winter, avoiding prolonged exposure to low temperatures.
  2. Stress from heat: heat can also be a problem. In fact, patients with mitochondrial disease have not efficient sweating. Please avoid overheated and overcrowded areas: you should use light clothing in summer, avoiding direct exposure to sunlight.
  3. Fever, infectious intercurrent: this can also be a "stress" to the body, especially in children (see "Diet")