Mitochondrial disease (primary due to a genetic defect) or secondary mitochondrial dysfunction occurs when the mitochondria are not able to do their job due to genetic, nutritional, environmental factors, infection, immune dysfunction, stress etc. In secondary mitochondrial dysfunction, you may not have a genetic defect.
When the mitochondria are not working properly, a whole host of symptoms may appear like developmental delays, low muscle tone, seizures, failure to thrive, swallowing and feeding difficulties, gastrointestinal issues, frequent infections, hearing and blindness etc.
You can screen for mitochondrial function through several blood tests, genetic testing which may not show up in every patient. The gold standard is muscle biopsy. A new test MitoSwab is a noninvasive test through a buccal swab is now available for patient use. It was discovered at the Drexel University and well validated with an 84% correlation to the muscle biopsy. This test can be used to analyze the mitochondrial electron transport chain complex.
In 2010, a landmark study by researchers at University of California Davis showed that 80% of the children with ASD enrolled in their study had tests indicating mitochondrial dysfunction.
Why should you screen for mitochondrial dysfunction in autism patients?
Optimal mitochondrial function is important for good health. If the defect is identified, appropriate intervention may be started, and this has shown to improve clinical outcomes in children with Autism.
Reference:
1. Frye RE et al. Pediatr Res. 2011 May; 69(5 Pt 2): 41R–47R.
2. Giulivi, et al., Mitochondrial Dysfunction in Autism. Journal of the American Medical Association. 2010;304:2389-2396.
3. Goh, et al. Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder: Evidence from brain imaging. JAMA Psychiatry2014; 71:665-671.
4. Geier, et al. A prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum disorders. Med Sci Monit2011;17:PI15-23.
5. Adams JH et al. Nutrients.2018 Mar 17;10(3). pii: E369.