| Literature DB >> 15781839 |
P Moretti1, T Sahoo, K Hyland, T Bottiglieri, S Peters, D del Gaudio, B Roa, S Curry, H Zhu, R H Finnell, J L Neul, V T Ramaekers, N Blau, C A Bacino, G Miller, F Scaglia.
Abstract
The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.Entities:
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Year: 2005 PMID： 15781839 DOI： 10.1212/01.WNL.0000154641.08211.B7
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910