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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-4309

Blau, N; Opladen, T (2008). Folates. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 717-724.

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This chapter will deal with analytical procedures for 5-methyltetrahydrofolic acid (5MTHF)in cerebrospinalfluid(CSF)and serum. Folic acid is a water-soluble vitamin that functions as a one-carbon donor in various metabolic cycles. It is involved in the biosynthesis of thymidylates and purines, methionine synthesis via homocysteine remethylation, the methylation of phospholipids, the interconversion of serine and glycine, and the metabolism of histidine and formate.It is therefore essentialfor growth, reproduction, and maintenance of normal body function. The natural form is referred to as folate;it consists mainly of 5MTHF and 10-formyltetrahydrofolate in their polyglutamate derivatives[1]. 5MTHF is the active one-carbon donor. It is transported through the blood–brain barrier to serve for a number of reactions in the centralnervous system
Serum folate deficiency is known to be associated with megaloblastic anemia, high blood levels of homocysteine, and neural tube defect in newborns as a result of folate shortage of the mother[2, 3]. Cerebral folate deficiency(CFD)is a recently recognized neurologicaldisorder found in several children with psychomotor retardation, spastic paraplegia, cerebellar ataxia, and dyskinesia.These patients have very low 5MTHF in their CSF, normal blood folates [4, 5], and some patients display a high titer of folate receptor-blocking autoantibodies[6].
CFD is further associated with the following inherited metabolic disor¬ders: 5,10-methylen-tetrahydrofolate reductase (MTHFR) deficiency [7], 3-phos-phoglycerate dehydrogenase (PGDH) deficiency [8], dihydropteridine reductase (DHPR) deficiency [9], as well as with Rett syndrome [10], and Aicardi-Goutières Syndrome [11]. Furthermore, folate deficiency may be associated with congenital folate malabsorption, severe malnutrition, and formiminotransferase deficiency.
5MTHF was initially measured by microbiological and radioisotope dilution as-say[12, 13], andlater by high-pressure liquid chromatography(HPLC)using elec-trochemical(EC), ultraviolet, or fluorescence detection[14-16]. Compared to other methods, EC detection is more sensitive.




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Additional indexing

Item Type:Book Section, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Date:31 May 2008
Deposited On:05 Dec 2008 10:27
Last Modified:05 Apr 2016 12:30
Publisher:Springer Verlag
ISBN:978-3-540-76697-1 (Print) 978-3-540-76698-8 (Online)
Publisher DOI:10.1007/978-3-540-76698-8_30
Related URLs:http://www.springerlink.com (Publisher)

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