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Cerebral folate deficiency: life-changing supplementation with folinic acid.

Abstract：

: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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Hansen FJ,Blau N

doi

10.1016/j.ymgme.2004.12.001

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

371-3

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(04)00309-9

journal_volume

84

pub_type

杂志文章

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