Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function. When they fail, less and less energy is generated within the
cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole organ systems begin to fail.
The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected. Mitochondrial disease is difficult to diagnose, because
it affects each individual differently. Symptoms can include seizures, strokes, severe developmental delays, inability to walk, talk, see, and digest food combined with a host of other
complications. If three or more organ systems are involved, mitochondrial disease should be suspected.
Traditionally, mitochondrial disease is tested through an invasive muscle biopsy. Recent research has found Buccal Swabs to have an 82% correlation with muscle biopsy results. This is huge for
clinicians because now we can test kids and adults quite easily when mitochondrial dysfunction is suspected.
When should you suspect mitochondrial dysfunction with kids on the spectrum?
Typically, kids that have not met or were delayed in meeting their milestones. If kids have low muscle tone and delayed motor development, clumsiness, seizures, migraines, diarrhea/constipation,
fatigue/lethargy, Ataxia or slow cognitive processing speed you should consider having a mitochondrial test. I now offer this test in my office. Contact me for details.