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Updated: Jun 3, 2026

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Detection of Central Nervous System Pathogens
Published on: April 17, 2026
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
Aida Ormazábal1, Belén Perez-Dueñas, Cristina Sierra
1Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
Objective:
To evaluate the automated determination of total cerebrospinal fluid (CSF) folates for the diagnosis of cerebral folate deficiency.
Method:
CSF and serum samples were analyzed in 60 children with different neurological disorders.
Result:
In all patients with genetic conditions leading to profound cerebral folate deficiency (impaired folate transport and metabolism), the automated folate determination showed altered values.
Conclusion:
CSF folate quantification provided profound CSF folate deficiency diagnosis caused either by folate transport or metabolism deficiencies.

