Total folate and 5-methyltetrahydrofolate in the cerebrospinal fluid of children: correlation and reference values
-
Tomoyuki Akiyama
,
Hiroko Tada
Abstract
Background: Cerebral folate deficiency (CFD) may be underdiagnosed, as it manifests with various non-specific neurological symptoms. The diagnosis of CFD requires a determination of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF), which is available in a limited number of specialized laboratories. In clinical biochemistry laboratories, total folate (TF) determination in serum or plasma is routinely performed by automated analyzers. The aim of this study is to determine whether the automated assay of CSF TF is a helpful screening tool for CFD.
Methods: We analyzed CSF samples collected from 73 pediatric patients. We measured CSF TF, serum TF, and CSF 5MTHF in 73, 70, and 48 patients, respectively. The assay of 5MTHF was conducted by a newly developed system utilizing liquid chromatography-tandem mass spectrometry (LC-MS/MS). We investigated the correlation between TF and 5MTHF in the CSF.
Results: There was a strong positive correlation between CSF TF and 5MTHF (ρ=0.930, p<0.0001, n=48). Age was negatively correlated with CSF TF (ρ=−0.557, p<0.0001, n=51), serum TF (ρ=−0.457, p=0.0008, n=51), and CSF 5MTHF (ρ=−0.387, p=0.0263, n=33), but not with the CSF/serum TF ratio.
Conclusions: The automated assay of CSF TF is helpful to estimate CSF 5MTHF. The CSF TF assay may have a significant impact on the early diagnosis of CFD, because clinicians have better access to it than the 5MTHF assay.
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©2015 by De Gruyter
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- Frontmatter
- Editorial
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- Mini Reviews
- Cell-free DNA for diagnosing myocardial infarction: not ready for prime time
- The Laboratory Medicine and the care of patients infected by the Ebola virus. Experience in a reference hospital of Madrid, Spain
- Opinion Papers
- Theranos phenomenon − part 2
- Considerations in parathyroid hormone testing
- Quantity quotient reporting. Comparison of various models
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- Assessing quality and functionality of DNA isolated from FFPE tissues through external quality assessment in tissue banks
- Influence of storage conditions and extraction methods on the quantity and quality of circulating cell-free DNA (ccfDNA): the SPIDIA-DNAplas External Quality Assessment experience
- Non-invasive fetal ABO genotyping in maternal plasma using real-time PCR
- Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis
- General Clinical Chemistry and Laboratory Medicine
- European views on patients directly obtaining their laboratory test results
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- Multi-analyte analysis of non-vitamin K antagonist oral anticoagulants in human plasma using tandem mass spectrometry
- Second generation analysis of antinuclear antibody (ANA) by combination of screening and confirmatory testing
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- Total folate and 5-methyltetrahydrofolate in the cerebrospinal fluid of children: correlation and reference values
- Effect of age and gender on reference intervals of red blood cell distribution width (RDW) and mean red cell volume (MCV)
- Infectious Diseases
- Inosine triphosphate pyrophosphohydrolase activity: more accurate predictor for ribavirin-induced anemia in hepatitis C infected patients than ITPA genotype
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- Iohexol interference in the α2-globulin fraction of the serum protein capillary electrophoresis
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