Cerebral folate deficiency syndrome

Also known as: CFD

Low CSF 5-methyltetrahydrofolate with neurologic disease.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Metabolic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infantile-onset after 4–6 months
Gene(s) involved: FOLR1

Etiology & mechanism

FOLR1 mutation or autoantibodies to folate receptor alpha.

Gene(s) involved (1)

FOLR1

Symptoms & signs (7)

ataxiadevelopmental regressionfolinic acid responsivehypotoniairritabilitymicrocephalyseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.