Folate Receptor Alpha Autoimmunity and Cerebral Folate Deficiency in Autism Spectrum Disorders

Cerebral folate deficiency (CFD) is a neurometabolic syndrome characterized by low levels of 5-methyltetrahydrofolate (5MTHF) in the brain despite normal systemic folate levels. Notably, CFD represents one of a few progressive neurological disorders that is treatable and potentially reversible.  Notably, some cases of CFD are due to mitochondrial disease (MD). An overlap between autism spectrum disorders (ASD), MD and CFD is found in some children with ASD, and therefore we recommend testing for MD and CFD/FRα autoantibodies in all individuals with ASD.