TY - JOUR
T1 - Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism
AU - Akiyama, Mari
AU - Akiyama, Tomoyuki
AU - Kanamaru, Kaoruko
AU - Kuribayashi, Mutsuko
AU - Tada, Hiroko
AU - Shiokawa, Tsugumi
AU - Toda, Soichiro
AU - Imai, Katsumi
AU - Kobayashi, Yu
AU - Tohyama, Jun
AU - Sakakibara, Takafumi
AU - Yoshinaga, Harumi
AU - Kobayashi, Katsuhiro
N1 - Funding Information:
This study was supported by a GSK Japan Research Grant 2014. This funding source had no involvement in the study design, the collection, analysis and interpretation of data, the writing of the report, or the decision to submit this article.
Publisher Copyright:
© 2016 Elsevier B.V.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2016/9/1
Y1 - 2016/9/1
N2 - Objective To describe an assay of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF) of children, to determine reference values, and to report the clinical significance of this assay in metabolic disorders affecting folate transport and metabolism. Methods CSF 5MTHF was determined by high-performance liquid chromatography with fluorescent detection in pediatric patients including one with FOLR1 gene mutation and one with methylenetetrahydrofolate reductase (MTHFR) deficiency. CSF total folate was measured using an automated analyzer. Results 5MTHF and total folate were determined in 188 and 93 CSF samples, respectively. CSF 5MTHF was high throughout the first six months of life and subsequently declined with age. Reference values of CSF 5MTHF and total folate were determined from 162 and 82 samples, respectively. The patient with FOLR1 gene mutation had extremely low CSF 5MTHF and total folate, though these values normalized after folinic acid supplementation. The patient with MTHFR deficiency had extremely low 5MTHF and moderately low total folate; these values were not associated and showed no significant change after folic acid supplementation. Conclusions This 5MTHF assay is simple, rapid, sensitive, reliable, and cost-effective. It will aid in the diagnosis and therapeutic monitoring of metabolic disorders affecting folate transport and metabolism.
AB - Objective To describe an assay of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF) of children, to determine reference values, and to report the clinical significance of this assay in metabolic disorders affecting folate transport and metabolism. Methods CSF 5MTHF was determined by high-performance liquid chromatography with fluorescent detection in pediatric patients including one with FOLR1 gene mutation and one with methylenetetrahydrofolate reductase (MTHFR) deficiency. CSF total folate was measured using an automated analyzer. Results 5MTHF and total folate were determined in 188 and 93 CSF samples, respectively. CSF 5MTHF was high throughout the first six months of life and subsequently declined with age. Reference values of CSF 5MTHF and total folate were determined from 162 and 82 samples, respectively. The patient with FOLR1 gene mutation had extremely low CSF 5MTHF and total folate, though these values normalized after folinic acid supplementation. The patient with MTHFR deficiency had extremely low 5MTHF and moderately low total folate; these values were not associated and showed no significant change after folic acid supplementation. Conclusions This 5MTHF assay is simple, rapid, sensitive, reliable, and cost-effective. It will aid in the diagnosis and therapeutic monitoring of metabolic disorders affecting folate transport and metabolism.
KW - FOLR1 gene mutation
KW - High-performance liquid chromatography
KW - MTHFR deficiency
KW - Reference value
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U2 - 10.1016/j.cca.2016.06.032
DO - 10.1016/j.cca.2016.06.032
M3 - Article
C2 - 27363740
AN - SCOPUS:84977263983
VL - 460
SP - 120
EP - 125
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
ER -