cerebral folate deficiency

Epidemiology

• < 100 cases total reported world wide

Pathology

• mutations in the folate transporter gene FOLR1 prevent folate from being transported into the brain resulting in low cerebral folate levels

Genetics

• mutations in the folate transporter gene FOLR1

Contraindications

• autism.

* the White House suggested that leucovorin was a potential treatment for autism

Clinical manifestations

• children with untreated cerebral folate deficiency develop more than autism
  • severe cognitive impairments
  • developmental regression
  • epilepsy
  • movement disorders

Laboratory

• FOLR1 mutation
• CSF folate
• Folate Receptor Autoantibody Test (FRAT) not recommended
  • expensive, not covered by insurance, false positives common
  • autoantibody does not equate to autoimmune

Management

• leucovorin crosses the blood-brain barrier by a mechanism that does not require the FOLR1 transporter

More general terms

• folate deficiency