Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases.

ABSTRACT:

Objective

The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5-methyltetrahydrofolic acid (5MTHF) across the blood-cerebrospinal fluid (CSF) barrier. We present the clinical biochemical data of two cases with CFD to support this hypothesis.

Methods

We measured CSF and serum 5MTHF concentrations in a patient with Kearns-Sayre syndrome (KSS) and a patient homozygous for MTHFR C677T polymorphism before and during folate supplementation therapy. To evaluate these 5MTHF concentrations, we also analyzed CSF and serum samples in pediatric patients without folate supplementation.

Results

Both patients had low CSF 5MTHF before treatment and high-dose FA therapy did not normalize C

SUBMITTER: Akiyama T 

PROVIDER: S-EPMC9626660 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature