Abstract
Background: Folates are essential cofactors for important metabolic pathways such as synthesis of amino acids, DNA and lipophilic substances. The main folate compound 5-methyltetrahydofolate (5MTHF) is actively transported across the blood- cerebrospinal fluid (CSF)-barrier to supply the brain. Cellular uptake of folates is mediated by the proton-coupled intestinal transporter, the reduced folate carrier, and by two GPI-anchored receptors, folate receptor α (FRa) and β (FRa). At least five distinct inherited disorders of folate transport and metabolism are presently. An inherited disorder of folate transport into brain has not been described yet.
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