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Cerebral Folate deficiency (CFD)

Cerebral folate deficiency (CFD) is associated with low levels of 5-methyltetrahydrofolate in the cerebrospinal fluid (CSF) with normal folate levels in the plasma and red blood cells.

The onset of symptoms caused by the deficiency of folates in the brain is at around 4 to 6 months of age. This is followed by delayed development, with deceleration of head growth, hypotonia, and ataxia, followed in one-third of children by dyskinesias (choreo-athetosis, hemiballismus), spasticity, speech difficulties, and epilepsy.

The low level of 5-methyltetrahydrofolate in the CSF can result from decreased transport across the blood-brain barrier, which is most probably because of the blocking of folate transport into the CSF by the binding of folate receptor antibodies to the folate receptors in the choroid plexus.

In some patients with true low levels of 5-methyltetrahydrofolate, treatment of the condition with folinic acid for prolonged periods may result in improvement of clinical symptoms.

 

Folinic Acid Supplements & Spinal Taps

If you have any questions, please contact our office for further details.

Cerebral Folate deficiency is well known within our field. It is a reported finding in some cases of mitochondrial disease as documented by a very low spinal fluid of a chemical known as 5-MTHF. On the scale that is commonly used, reported levels that typically require intervention are 10-25 with normal being 40-150. SOME patients in that low range of 10-25 do respond to doses of folinic acid, showing some improvement or stabilization of their clinical symptoms. In Dr Kendall's personal experience, however, as well as that of some of her trusted colleagues in the field, most patients do not respond to this therapy. For that reason, Dr Kendall is very skeptical of retapping patients who have previously tested in the normal range. She does not believe this practice meets the current standard of care.

Dr Kendall feels that there needs to be a very substantial reason to put a child or adult, especially those who may already be in a weakened condition, through the discomfort and possible danger of a spinal tap. She strongly recommends that families seek a second opinion, especially from their treating physician, before they consider taking this step.

VMP & Dr Fran Kendall focuses on the diagnosis and management of children and adults with rare disorders utilizing state of the art technology and years of experience. With simple and cost effective technology, we provide excellence in specialized care to patients in often underserved areas.

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