Mitochondria are the powerhouse of providing energy in our cells. They change nutrients from food into a compound named adenosine triphosphate which all cells need to function. Mitochondrial disorders are estimated to affect one in 5000 people. Mitochondrial disorders are also referred to as Respiratory chain defects.
Nutrition has been the primary therapy for mitochondrial disorders along with supplements and medications. Unfortunately, as with all rare diseases, there are few studies to examine which therapies are best.
The brain, nervous system, muscles, heart and eyes demand the highest energy supply therefore mitochondria disorders result in multiple impairments including mental retardation, weakness, gastrointestinal, cardiac and neurological problems including seizures.
Diagnosis of mitochondrial disease is a complex process since the symptoms can be related to many different disorders.
Evaluation of a child thought to have a mitochondrial disease includes a thorough medical history, physical and biochemical testing, MRI, and muscle biopsy.
Once a diagnosis is made, the treatment plan can be determined. There is no cure for mitochondrial disorder therefore the purpose of treatment is to alleviate the symptoms.
Epilepsy and seizures are common in those with mitochondrial disorders. Several case reports have been published recently showing benefit of ketogenic diet therapy for mitochondrial disorders including Complex I, II, III and IV.