In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MT HF) levels in the cerebrospinal fluid are low, but folate levels in the serum an d erythrocytes are normal. We examined serum specimens from...In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MT HF) levels in the cerebrospinal fluid are low, but folate levels in the serum an d erythrocytes are normal. We examined serum specimens from 28 children with cer ebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, a nd 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 pa tients and 0 of 28 control subjects contained highaffinity blocking autoantibodi es against membrane-bound folate receptors that are present on the choroid plex us. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which auto antibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.展开更多
文摘In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MT HF) levels in the cerebrospinal fluid are low, but folate levels in the serum an d erythrocytes are normal. We examined serum specimens from 28 children with cer ebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, a nd 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 pa tients and 0 of 28 control subjects contained highaffinity blocking autoantibodi es against membrane-bound folate receptors that are present on the choroid plex us. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which auto antibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.
