What are the Causes, Symptoms and Signs of Cerebral Folate Deficiency?

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Cerebral folate deficiency usually develops in the first year of a baby’s life. The causes for this serious medical condition are not yet determined, but it is very likely that the immune system is involved.

We absorb folates through food but the problem occurs when the folates need to be transported from the blood into the brain. Choroid plexus, which is known to be an interface between the blood and brain, doesn’t transport the folates to the brain properly.

Lower levels of folate lead to neurodegenerative symptoms. Some are very benign, like irritability, while others are very severe, like brain damage.

The Causes

When the body needs more folate and the intake of folate through food is inadequate, deficiency of folate occurs. Some medications can interfere with how the body absorbs and uses folate, leading to increased need for this vitamin.

When there isn’t enough folate in the blood, systemic folate deficiency can be the result. However if the levels of folate are normal in the blood but are low in the cerebral spinal fluid, then someone may likely be experiencing cerebral folate deficiency.

The low level of 5-methyltetrahydrofolate in the CSF (cerebrospinal fluid) can result from decreased transport across the blood. The finding of folate receptor antibodies suggests that this low level can be caused by the blocking of folate transport into the CSF. It is easy to detect a genetic mutation with genetic testing, where folate absorption mutations, like MTHFR, can be discovered.

Autoimmune response may deliver damage to the choroid plexus, leading to its inactivation and reduced flow of folate into the brain.

The Signs

Weight loss and loss of appetite can occur, together with headaches, weakness, irritability, heart palpitations, sore tongue and behavioral disorders. Adults can also experience anemia, which may indicate advanced folate deficiency.

Growth rate may be affected with children who suffer from folate deficiency, while pregnant women who have folate deficiency may give birth to infants with neural tube defects and low birth weight. Considering that some symptoms can be a result of other medical conditions, it is important to meet with a physician who will evaluate all the symptoms and provide proper medical care.

Low levels of folate can also lead to depression because the normal formation of neurotransmitters, like serotonin, is hindered. Transmethylation (1, 2) reaction can also be disrupted, which leads to impaired metabolism of the myelin sheath, phospholipids and receptors.


Lightly steaming folate-rich vegetables can help them retain more of their natural folate (don’t overcook) which, in turn, should help increase folate intake. L-methylfolate supplements can also increase the absorption of active folate, as well as cross the blood-brain barrier to reduce and even reverse the symptoms of cerebral folate deficiency.

4 Responses to “What are the Causes, Symptoms and Signs of Cerebral Folate Deficiency?”

  1. Jason Whitmore says :

    I would think this is a very good reason why you would want to make sure you get to your checkups for your new baby.

  2. Thomas says :

    I highly agree with Jason, this is something that has been worrying my wife and I, as we’re looking to have a baby in the near future and she may have a folate deficiency. I think we’re definitely going to schedule an appointment to have her screened and then we’ll go from there if we need supplements.

  3. Nathanial Berggren says :

    This is really good. I saw some of the products as well and I’m tempted to order one or two. Our bodies will always have deficiency with the vitamins it needed due to our different lifestyles specially for those who can’t exercise like me. I think this will help us a lot since we can take it as a supplement.

  4. Monica says :

    Thanks, this is awesome! This is so helpful. My son had a lumbar puncture for severe paediatric epileptic encephalopathy. He also has autistic traits. His cerebral folate levels were 38. Low. In your research, what dose of Leucovorin Calcium is appropriate? I’m wondering if the 5mg/day my son was prescribed is sufficient.

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