伴有发育迟缓、自闭症及对亚叶酸反应的脑叶酸缺乏症
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.
作者信息
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
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7.
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.
作者描述了一名6岁女孩，有发育迟缓、精神运动倒退、癫痫发作、智力障碍以及与脑脊液中5-甲基四氢叶酸（脑脊液和血液中叶酸的生物活性形式）水平低相关的自闭症特征。外周组织中的叶酸和维生素B12水平正常，提示存在脑叶酸缺乏。用亚叶酸治疗纠正了脑脊液异常并改善了运动技能。
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