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Cerebral folate deficiency with development delay, autism, and response to folinic acid

被引：106
作者：
Moretti, P
Sahoo, T
Hyland, K
Bottiglieri, T
Peters, S
del Gaudio, D
Roa, B
Curry, S
Zhu, H
Finnell, RH
Neul, JL
Ramaekers, VT
Blau, N
Bacino, CA
Miller, G
Scaglia, F
机构：
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA
[3] Baylor Univ, Med Ctr, Inst Metab Dis, Dallas, TX USA
[4] Texas A&M Univ, Hlth Sci Ctr, Inst Biosci & Technol, Houston, TX USA
[5] Texas A&M Univ, Hlth Sci Ctr, Ctr Environm & Genet Med, Houston, TX USA
[6] Univ Hosp Aachen, Dept Pediat Neurol, Aachen, Germany
[7] Univ Hosp Aachen, Dept Pediat, Aachen, Germany
[8] Sophia Childrens Univ Hosp, Div Clin Chem & Biochem, Zurich, Switzerland
来源：
NEUROLOGY | 2005年 / 64卷 / 06期
关键词：
D O I：
10.1212/01.WNL.0000154641.08211.B7
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：1088 / 1090
页数：3
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