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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

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.[1]

References

  1. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Moretti, P., Sahoo, T., Hyland, K., Bottiglieri, T., Peters, S., del Gaudio, D., Roa, B., Curry, S., Zhu, H., Finnell, R.H., Neul, J.L., Ramaekers, V.T., Blau, N., Bacino, C.A., Miller, G., Scaglia, F. Neurology (2005) [Pubmed]
 
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