A new form of cerebral folate deficiency with severe self-injurious behavior
Acta Pediatrica, 08/16/2012
Leuzzi V et al. – Cerebral Folate Deficiency (CFD) is a severe neurometabolic encephalopathy including psychomotor retardation, autistic–like behavior, decelerated head growth, ataxia, hypotonia, spasticity, dyskinesia, and early onset epilepsy. It is typically associated with low levels of 5–methyltetrahydrofolate (5MTHF) in cerebrospinal fluid (CSF) and normal systemic folate metabolism.