Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism

Mari Akiyama, Tomoyuki Akiyama, Kaoruko Kanamaru, Mutsuko Kuribayashi, Hiroko Tada, Tsugumi Shiokawa, Soichiro Toda, Katsumi Imai, Yu Kobayashi, Jun Tohyama, Takafumi Sakakibara, Harumi Yoshinaga, Katsuhiro Kobayashi

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)120-125
Number of pages6
JournalClinica Chimica Acta
Volume460
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • FOLR1 gene mutation
  • High-performance liquid chromatography
  • MTHFR deficiency
  • Reference value

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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