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

Authors :: Ormazábal A
Perez-Dueñas B
Sierra C
Urreitzi R
Montoya J
Serrano M
Campistol J
García-Cazorla A
Pineda M
Artuch R
Source :: Clinical biochemistry [Clin Biochem] 2011 Jun; Vol. 44 (8-9), pp. 719-21. Date of Electronic Publication: 2011 Mar 22.
Publication Year :: 2011
Abstract: Objective: To evaluate the automated determination of total cerebrospinal fluid (CSF) folates for the diagnosis of cerebral folate deficiency.<br />Method: CSF and serum samples were analyzed in 60 children with different neurological disorders.<br />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.<br />Conclusion: CSF folate quantification provided profound CSF folate deficiency diagnosis caused either by folate transport or metabolism deficiencies.<br /> (Copyright © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

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

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