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ASD could be linked to mitochondrial disease, a basic cellular abnormality with the potential to cause disturbances in a wide range of body systems. [62] A 2012 meta-analysis study, as well as other population studies show that approximately 5% of autistic children meet the criteria for classical mitochondrial dysfunction. [63]
The prevalence estimates of mitochondrial disease and dysfunction across studies ranging from about 5 to 80%. This may be, in part, due to the unclear distinction between mitochondrial disease and dysfunction. Mitochondrial diseases are difficult to diagnose and have become better known and detected.
Others have speculated that in the Poling case, all that was really conceded was that "the vaccines, given to Hannah in 2000, aggravated a pre-existing condition [namely, mitochondrial disease] that then manifested as autism-like symptoms." [6] Similarly, Rahul K. Parikh contended that
Robert K. Naviaux (born in 1956) is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, [1] [2] and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. [3]
NDUFA5, ATP5A1 and ATP5A1 all show consistently reduced expression in brains of autism patients. Mitochondrial dysfunction and impaired ATP synthesis can result in oxidative stress, which may play a role in the development of autism.
Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the TMLHE gene in chromosome X. [ 4 ] [ 5 ] [ 6 ] Mutations in the TMLHE gene resulting in carnitine biosynthesis disruption have been associated with autism symptoms.
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart , bladder , intestines , sweat glands , pupils , and blood vessels.
Richard Eugene Frye is an American autism researcher and associate professor at Arizona Children's Hospital in Phoenix, and formerly of the University of Arkansas for Medical Sciences's department of pediatrics, [1] as well as the Director of the Autism Multispecialty Clinic at Arkansas Children’s Hospital. [2]
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