5-methyltetrahydrofolate (CSF)

HPLC with fluorescence detection
Clinical details: 
Cerebral folate deficiency (CFD) is a neurological condition associated with low levels of 5MTHF in the CSF with normal 5MTHF in the peripheral circulation. In CFD the age of onset for symptoms is 4-6 months when there is deceleration of head growth, irritability and insomnia. After 6 months there is a delay in neurodevelopmental milestones including psychomotor retardation and hypotonia with poor postural control. After six years of age visual disorders may also develop. Some of the children also develop spasticity, speech difficulties and epilepsy. There have been a number of suggested causes for CFD including decreased transport across the blood-brain barrier. The suggested mechanisms for the decreased transport across the blood-brain barrier include blocking of folate receptor 1 by autoantibodies and mutations in the FOLR1 gene. A possible mechanism of autoantibody production can be exposure to soluble folate receptors from milk because soluble folate receptors in cow’s milk have 90 % homology to the human receptor. Treatment of CFD with folinic acid over a long period can significantly improve clinical symptoms in patients with CFD.
Reference range: 

age related: 0-10 months - 66-203;11 months-4 years - 48-127; >5 yrs 35-124

Synonyms or keywords: 
Folate CSF, 5-MTHF
Sample type and Volume required: 
Minimum 300uL
Call in advance: 
Turnaround time: 
10 days
Special sample instructions: 

Protect specimens from light and store frozen at -20 degrees, transport on ice.

Storage and transport: 
CSF/frozen at -20 degrees, transport on ice
Nutristasis Unit at St Thomas'
020 7188 6815 / 89543
St Thomas' Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH

Laboratory opening times
Monday - Friday 09.00 - 17.00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 13/06/2017