Treatments for Mitochondrial Disease in Children

Managing your child's condition

While mitochondrial disorders have no cure, children often do better when symptoms are caught and addressed early. Your child will be followed closely and screened for a variety of conditions related to mitochondrial disease, such as heart, vision and hearing problems.

Symptoms can often be alleviated by maintaining good general health, including careful attention to nutrition and avoiding infections and dehydration. To ensure that patients get the nutrition they need, we often work with registered dieticians in the Metabolism Program.

Exercise is one of the few proven methods for improving mitochondrial functioning and can help preserve your child’s strength and endurance. Exercise regimens should be supervised, should build up very gradually in intensity and should be suspended during illness.

Treatment regimens

Currently, vitamins and supplements are the mainstay of treatment for mitochondrial disorders. They are thought to help mitochondria produce energy and reduce accumulation of toxic compounds inside cells. These supplements and cofactors are sometimes given together in “cocktails.” At present, the compounds that have been most well tested include coenzyme Q10 and creatine, but we also use a great variety of other supplements.

Regimens for specific mitochondrial disorders may include compounds that are deficient because of the disease, such as arginine (in MELAS) and folinic acid (in Kearns-Sayre syndrome). At Boston Children’s, we are testing dichloroacetate (DCA), which counters the high levels of lactic acid found in some mitochondrial disorders. In certain disorders, we may prescribe a special diet.

Supportive care

Because children with mitochondrial disease tend to be very sensitive to the stresses caused by minor illnesses like colds and fevers, we sometimes prescribe additional supportive therapies when the child is sick. These can include vitamins, cofactors, medications to counter biochemical imbalances that may occur, beverages containing electrolytes and sometimes intravenous (IV) hydration and IV antibiotics. In some instances, your child may need to be monitored in the hospital.

Children with mitochondrial disease also are known to be sensitive to a variety of drugs, as well as anesthetics used for surgical procedures. We will work closely with your pediatrician and other specialists to avoid harmful reactions.

Individual follow-up

In addition to these general treatments, we coordinate your child’s ongoing care with specialists, such as cardiologists, endocrinologists or gastroenterologists to manage specific symptoms. If at any time your child has to be admitted to Boston Children’s, our team will follow her while in the hospital.