Article
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.
Neurology - 22 Mar 2005
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
Abstract excerpt
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...
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