Cerebral folate deficiency
Cerebral folate deficiency can be produced by a specific transport defect resulting in decreased transport of folate across the blood-brain barrier at the choroid plexus. This may be caused by either folate receptor alpha deficiency resulting from mutations of the FOLR1 encoding gene with an autosomal-recessive pattern of transmission, or by production of blocking/binding autoantibodies. Patients may have developmental delay or regression, hypotonia, seizures, visual disturbances, and autistic features.
Oct. 21, 2020