Therapy

There is no effective treatment for mitochondrial disease. Current therapies aim at achieving two main goals:

  • reducing the severity of symptoms
  • delaying the progression of the disease

The efficacy of therapy varies from patient to patient, depends on the biochemical and genetic defect, and also on the severity of symptoms.

Patients with mild to moderate symptoms usually respond better to treatment than severely affected patients.

In some patients, treatment must be personalized; other patients do not respond to treatment whatsoever.

Beneficial effects of treatment may ensue early after the start of therapy, or be delayed by several months, or even fail to be perceived by the patient but efectively delay disease progression.

No therapy can ameliorate irreversible damage already present at the beginning of treatment (e.g. cerebral necrotic lesions).
 

 

 

 

 

 

Key Points in Treatment are:

  • Use of widely acknowledged treatments for some symptom (anti-epileptic drugs in case of seizures, physical therapy for motor impairment, etc..)
  • Adequate diet
  • Vitamins and co-factors
  • Avoidance of stress

Treatment must be personalized by the doctor according to patient’s needs.

Diet

A specialist in metabolic disease must be consulted for a correct diet. It is dangerous to take personal initiatives or to make any changes without having first consulted a specialist. Elements useful in the treatment of some diseases may be harmful in others.

Avoid not eating. This is the most important thing to keep in mind. Not eating means depriving “fuel” to our cells which is essential if we are affected by an energy deficiency. Even the nightly period (8:00 p.m. to 8:00 a.m.) can be dangerous in some patients. Patients also should not diet for weight-loss purposes. Normal flu symptoms such as vomiting or lack of appetite can result in damage. It is always wise to consult a specialist when such symptoms occur. In babies and infants it is sometimes useful an overnight intravenous caloric supply, to avoid an energetic crisis.

Light, frequent meals are preferable to the classic three meals a day. Before going to bed, it is wise to have a light meal consisting of complex slow-release carbohydrates. Maizena is ideal but not very tasty. Rice or pasta are preferable to sweets.

It is very much open to debate in the scientific community whether a fat-rich diet rich is preferable to a sugar-rich one, for patients with OXPHOS defects. Some patients respond well to this diet while others do not and symptoms worsen. The use of MCT (medium-chain triglyceride) oil is advisable, sinc MCT oil is easier to metabolize than other oils and is lighter than butter.

Vitamins and co-factors

Both vitamins and co-factors are essential for all the biochemical reactions that take place in our organism. While we can “construct” co-factors ourselves, we must include vitamins in our diet. Normally, a healthy, well-balanced diet provides us with all the vitamins needed. However, in patients with mitochondrial disorders, it may be necessary to add extra vitamins and co-factors, even if there is some doubt to their effectiveness among clinicians. In patients with OXPHOS disorders, coenzyme Q10 is often used. The use of these compounds can have two functions:

  • it may increase enzyme activity, thereby rendering the production of energy more effective
  • as an antioxidant it can help delay disease progression

The following is a list of antioxidants, cofactors and vitamins used in the treatment of mitochondrial disease only under the careful supervision of a specialist:

Coenzyme Q10, carnitine, riboflavin (vitamin B2), acetyl-carnitine, thiamine (vitamin B1), nyacin (vitamin B3), vitamin E, ascorbate (vitamin C), Lipoic Acid, Selenium, Folic acid, calcium, magnesium, phosphorus, Succinate, Creatine, Uridine, Citrate, Vitamin K3.

Damaging substances

It has been proved that alcohol intake can accelerate the progression of some mitochondrial illnesses.

Smoking can also have the same effect; carbon monoxide in fact inhibits Complex IV of the respiratory chain. Smoking is to be avoided as it is dangerous for all, including those forced to breathe in second-hand smoke.

Excessive use of monosodium glutamate (contained in high levels in bouillon cubes and most Chinese food) is also to be avoided. This substance, noted for causing painful migraines in sensitive subjects, can have the same effect on patients suffering from mitochondrial disease.

Undesirable effects of Stress

Stress caused by low-temperature. Regulating body temperature is not always very effective in patients affected by mitochondrial disease. Exposure to low temperatures can provoke heat-loss resulting in metabolic crises. One must dress warmly in winter, and avoid prolonged exposure to low temperatures.

Stress caused by high temperature. Heat can also be a problem as patients with mitochondrial disease do not perspire sufficiently. Over-crowded and over-heated environments are to be avoided. Dress lightly in summer and avoid direct exposure to the sun.

Adequate sleep is required; avoid poor sleeping habits.