Autoimmune folate deficiency

被引:0
作者
López, JC
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中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The molecular underpinnings of a infantile-onset cerebral folate deficiency has come to light, opening the door to badly needed early diagnosis and intervention. This disease, characterized by developmental retardation, motor disturbances and, in late stages, hearing and vision loss. The cerebrospinal fluid of children with this condition has low levels of 5-methyltetrahydrofolate, whereas serum concentration fo this folate metabolite is normal. Sera from individuals with the disease contains autoantibodies against high-affinity folate receptors present in the choroid plexus where cerebrospinal fluid is formed. Theseautoantibodies, present in 25 out of 28 patients, blocked the receptor.
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页码:604 / 604
页数:1
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