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

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

Cerebral folate deficiency usually develops in the first year of a baby’s life. The causes of 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, folic acid deficiency occurs. Some medications can interfere with how the body absorbs and uses folate, leading to an 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

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

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. Anemia can happen when your body doesn't have enough healthy red blood cells.

The growth rate may be affected in children who suffer from folate deficiency, while pregnant women who have folate deficiency may give birth to infants with neural tube defects (affecting the brain, spinal cord, and spine) and low birth weight. Some babies are born unable to absorb folic acid. 

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. Diagnosing folate deficiency Diagnosis is based on the evaluation of symptoms and blood tests.

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.


Eating a nutritious and healthy diet to prevent folate deficiency can be very helpful. 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.



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