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

Aida Ormazábal; Belén Perez-Dueñas; Cristina Sierra; Roser Urreitzi; Julio Montoya; Mercedes Serrano; Jaume Campistol; Angels García-Cazorla; Mercé Pineda; Rafael Artuch

doi:10.1016/j.clinbiochem.2011.03.002

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

Clin Biochem. 2011 Jun;44(8-9):719-21. doi: 10.1016/j.clinbiochem.2011.03.002. Epub 2011 Mar 22.

Authors

Aida Ormazábal¹, Belén Perez-Dueñas, Cristina Sierra, Roser Urreitzi, Julio Montoya, Mercedes Serrano, Jaume Campistol, Angels García-Cazorla, Mercé Pineda, Rafael Artuch

Affiliation

¹ Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.

PMID: 21396357
DOI: 10.1016/j.clinbiochem.2011.03.002

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Child, Preschool
Diagnosis, Differential*
Female
Folic Acid / blood*
Folic Acid / cerebrospinal fluid*
Folic Acid Deficiency / cerebrospinal fluid*
Folic Acid Deficiency / diagnosis*
Humans
Infant
Infant, Newborn
Male
Nervous System Diseases / cerebrospinal fluid
Nervous System Diseases / diagnosis
Young Adult

Substances

Folic Acid