Cerebral folate deficiency
Cerebral Folate Deficiency
Cerebral folate deficiency (CFD) is a rare neurological condition, typically characterized by low levels of 5-MTHF (the main form of folate in cerebrospinal fluid) in the brain.
Pronunciation
Cerebral: /səˈriːbrəl/ Folate: /ˈfoʊleɪt/ Deficiency: /dɪˈfɪʃ(ə)nsi/
Etymology
The term "cerebral" is derived from the Latin word cerebrum which means brain. "Folate" comes from the Latin word folium, meaning leaf, as folate is abundant in green leafy vegetables. "Deficiency" is derived from the Latin deficientia, meaning a lack or shortage.
Symptoms
Symptoms of CFD can vary widely, but often include developmental delay, seizures, and ataxia. Other symptoms may include autistic-like behavior, dyskinesia, and spasticity.
Causes
CFD is typically caused by autoantibodies that interfere with the transport of folate across the blood-brain barrier. It can also be caused by certain genetic mutations, such as those affecting the FOLR1 gene.
Treatment
Treatment for CFD often involves high-dose folinic acid supplementation. Other treatments may include addressing any underlying causes, such as treating any associated autoimmune diseases or managing symptoms.
Related Terms
External links
- Medical encyclopedia article on Cerebral folate deficiency
- Wikipedia's article - Cerebral folate deficiency
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