دورية أكاديمية
Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases
| العنوان: | Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases |
|---|---|
| المؤلفون: | Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi |
| المصدر: | JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022) |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Diseases of the endocrine glands. Clinical endocrinology LCC:Genetics |
| مصطلحات موضوعية: | 5‐formyltetrahydrofolic acid, cerebral folate deficiency, folate receptor 1, folinic acid, Kearns‐Sayre syndrome, methylenetetrahydrofolate reductase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470 |
| الوصف: | 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 CSF 5MTHF. There was a dissociation between serum total folate and 5MTHF concentrations during FA therapy, which was considered to be due to the appearance of unmetabolized FA. The addition of folinic acid did not improve low CSF 5MTHF in the KSS patient and the cessation of FA resulted in the normalization of CSF 5MTHF. In the patient homozygous for MTHFR C677T, minimization of the FA dosage resulted in the normalization of CSF 5MTHF and an increased CSF‐to‐serum 5MTHF ratio. Conclusions Our data suggest that excess supplementation of FA impaired 5MTHF transport across the blood–CSF barrier. In the treatment of CFD, supplementation of folinic acid or 5MTHF (in cases of impaired 5MTHF synthesis) is preferred over the use of FA. The reference values of CSF 5MTHF concentration based on 600 pediatric cases were also provided. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2192-8312 |
| العلاقة: | https://doaj.org/toc/2192-8312Test |
| DOI: | 10.1002/jmd2.12321 |
| الوصول الحر: | https://doaj.org/article/5777a91eae754e17a852a102daa09081Test |
| رقم الانضمام: | edsdoj.5777a91eae754e17a852a102daa09081 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 21928312 |
|---|---|
| DOI: | 10.1002/jmd2.12321 |