When folic acid, specifically its active form 5-methyltetrahydrofolate (5-MTHF), is reduced in the cerebrospinal fluid and its level in the blood is normal, cerebral folate deficiency develops.
Since folic acid and folate are actively involved in the reproductive system, embryonic and postnatal neuropsychiatric development, folic acid deficiency in the brain leads to developmental delays and various neuropsychiatric abnormalities.
Symptoms
The clinical symptomatology may vary depending on the time when a person's body (or even a child's parents) first did not get enough folate (depending on the age of the person).
If this happened before birth (folate deficiency in the parents' reproductive cells, folate deficiency in the mother), the presence of antibodies to folic acid receptors (FRa autoantibody) in the parents makes it difficult to transfer folate to the fetal brain and may cause such problems:
• Infertility, difficulty in conceiving a child, gestosis.
• Defects of the neural tube, developmental disorders.
• Risk of developing RAS.
After Birth:
• Low IQ autism with neurological deficits.
• Spastic-ataxic syndrome.
• Autism spectrum disorder.
• Delayed speech.
• Dystonia.
• Epilepsy.
• Catatonic schizophrenia.
• Dementia.
• Visual and hearing impairment.
If treatment is not begun in time, the neurological dysfunction will worsen. In addition, there is a high risk of worsening signs of autism, epilepsy, and other symptoms, so you should not hesitate to seek medical attention.
There are no specific preventive measures to prevent the development of cerebral folate deficiency, but consumption of milk (casein) and high doses of synthetic folic acid (more than 1 mg per day) can provoke the development of CFD. If autoantibodies to folate receptor (linc FRAT) are detected in parents, it is recommended to reduce the autoimmune reaction when planning pregnancy, take folinic acid (as prescribed by the doctor). If therapy is continued for 3 months before conception, there is a 99% chance of having a healthy baby.
The treatment of cerebral folate deficiency is based on folinic acid (a special form of folic acid) and folic acid receptor antibodies. The doctor at the VIVERE CLINIC Medical Center calculates the dosage and the duration of treatment individually for each case. A dairy-free diet is also recommended since the milk of animal origin increases the amount of autoantibodies to the folate receptor. The therapy program may additionally include modern techniques for eliminating neurological disorders.
Cerebral folate deficiency in infancy is well treated. If treatment is started in time, it is possible to get rid of the symptoms and achieve complete recovery. For this reason, it is better not to put off going to the doctor, but to make an appointment for a consultation at the appearance of the first symptoms.
The cost of the examination that patients must undergo for an accurate diagnosis depends on the set of tests and the need for additional services. A pediatric neurologist and geneticist work with the patient.
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