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Mol Genet Metab. 2005 Apr;84(4):371-3. Epub 2005 Jan 22.

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

Author information

1
Division of Pediatric Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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.

PMID:
15781200
DOI:
10.1016/j.ymgme.2004.12.001
[Indexed for MEDLINE]

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