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Article

Cerebral folate deficiency.

Journal of inherited metabolic disease - 1 Oct 2010

Hyland Keith, Shoffner John, Heales Simon J

Abstract excerpt

Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5MTHF) in the presence of normal peripheral folate status. CFD has a wide clinical presentation, with reported signs and symptoms generally beginning at around 4 months of age with irritability and sleep disturbances. These can be followed by...

Topics

Administration, Oral
Autoantibodies
Brain Diseases
Dietary Supplements
Folate Receptor 1
Folic Acid Deficiency
Folic Acid Transporters
Genetic Predisposition to Disease
Humans
Leucovorin
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Risk Factors

Tetrahydrofolates

Treatment Outcome

Source

Identifiers

PMID: 20668945
DOI: 10.1007/s10545-010-9159-6

Genes

CFD
FOLR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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