Abstract
Cerebral folate transport deficiency (CFD) is a potentially treatable neurometabolic condition that may lead to a severe progressive neurological deterioration.1,2 This disorder is caused by mutations in the folate receptor 1 (FOLR1) gene encoding the folate receptor alpha (FRα) protein,2 with an ensuing impaired transport of folate via FRα-dependent endocytosis into the cerebrospinal fluid (CSF). The concentration of 5-methyltetrahydrofolate (5-MTHF), a cofactor in the synthesis of neurotransmitters, is decreased in the CSF despite normal blood folate levels.
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