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Previous Volume 352:1985-1991 May 12, 2005 Number 19 Next

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SUMMARY

In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examined serum specimens from 28 children with cerebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, and 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which autoantibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.

Source Information

From the Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany (V.T.R., T.O.); the Department of Medicine, State University of New York Downstate Medical Center, Brooklyn (S.P.R., J.M.S., E.V.Q.); the Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland (T.O., N.B.); and the Vitamin Metabolism and Aging Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston (J.S.).

Address reprint requests to Dr. Ramaekers at the Division of Pediatric Neurology, Universitätsklinikum Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany, or at vramaekers{at}ukaachen.de.

Full Text of this Article

Related Letters:

Cerebral Folate Deficiency Syndrome
Willemsen M. A.A.P., Wevers R. A., Vebeek M. M., Ramaekers V. T., Blau N.
Extract | Full Text | PDF  
N Engl J Med 2005; 353:740, Aug 18, 2005. Correspondence

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