Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency.

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.