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Cerebral folate deficiency

Published online by Cambridge University Press:  10 November 2004

Vincent Th Ramaekers
Affiliation:
Division of Paediatric Neurology, University Hospital Aachen, Germany.
Nenad Blau
Affiliation:
Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.
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Extract

Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. CFD could result from either disturbed folate transport or from increased folate turnover within the central nervous system (CNS).

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© 2004 Mac Keith Press

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