About Folinic acid-responsive seizures

What is Folinic acid-responsive seizures?

Folinic acid-responsive seizures are a type of seizure disorder that is caused by a deficiency in folinic acid, a form of vitamin B9. These seizures can be triggered by a variety of factors, including stress, illness, and certain medications. Symptoms of folinic acid-responsive seizures include confusion, loss of consciousness, and convulsions. Treatment typically involves supplementing with folinic acid and avoiding triggers.

What are the symptoms of Folinic acid-responsive seizures?

Symptoms of folinic acid-responsive Seizures can vary depending on the type of seizure, but may include:

- Uncontrollable jerking or twItching of the arms and legs

- Loss of consciousness

- Staring spells
- Confusion
- Difficulty speaking
- Abnormal behavior
- Loss of bladder or bowel control
- Unusual sensations such as Tingling or numbness
- Difficulty breathing
- Rapid heart rate

What are the causes of Folinic acid-responsive seizures?

Folinic acid-responsive seizures are caused by a genetic disorder known as folinic acid-responsive seizures disorder (FARS). This disorder is caused by a mutation in the MTHFR gene, which is responsible for the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is responsible for converting folate into its active form, which is necessary for normal brain development and function. Without this enzyme, folate cannot be properly metabolized, leading to a deficiency in folate and an increased risk of seizures. Other causes of FARS include folate deficiency due to poor diet, certain medications, and certain medical conditions.

What are the treatments for Folinic acid-responsive seizures?

1. Increase folinic acid dosage
2. Add anticonvulsant medications such as phenytoin, carbamazepine, or valproic acid
3. Consider a ketogenic diet
4. Consider vagal nerve stimulation
5. Consider surgery for refractory cases

What are the risk factors for Folinic acid-responsive seizures?

1. Genetic mutations in folate metabolism pathways
2. Low levels of folate in the body
3. Certain medications, such as anticonvulsants, sulfonamides, and methotrexate
4. Malnutrition
5. Liver disease
6. Kidney disease
7. Certain types of cancer
8. Alcoholism
9. Certain types of anemia
10. Certain types of infections

Is there a cure/medications for Folinic acid-responsive seizures?

Yes, there are medications available to treat folinic acid-responsive seizures. These include anticonvulsants such as carbamazepine, phenytoin, and valproic acid. Additionally, folinic acid supplementation may be used to help reduce the frequency and severity of seizures.