Cerebral folate deficiency: life-changing supplementation with folinic acid

被引：48

作者：

Hansen, FJ

Blau, N ^{[1
]}

机构：

[1] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, Zurich, Switzerland

[2] Univ Copenhagen Hosp, Rigshosp, Div Pediat Neurol, DK-2100 Copenhagen, Denmark

来源：

MOLECULAR GENETICS AND METABOLISM | 2005年 / 84卷 / 04期

关键词：

5-methyltetrahydrofolate; spastic paraplegia; folates; blood-brain barrier;

D O I：

10.1016/j.ymgme.2004.12.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on folinic acid (15-30 mg/day) and her 5-methyltetrahydrofolate in CSF normalized. This report demonstrates the importance of CSF investigation in the diagnosis of cerebral folate deficiency and efficiency of folinic acid (5-formyltetrahydrofolate) supplementation. (c) 2004 Elsevier Inc. All rights reserved.

引用

收藏

页码：371 / 373

页数：3

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