About Cerebral Folate Deficiency

What is Cerebral Folate Deficiency?

Cerebral folate deficiency (CFD) is a rare genetic disorder caused by a deficiency of the enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR). This enzyme is responsible for converting dietary folate into its active form, 5-methyltetrahydrofolate, which is necessary for the synthesis of the neurotransmitters serotonin, dopamine, and norepinephrine. Without adequate levels of these neurotransmitters, individuals with CFD may experience a variety of neurological symptoms, including seizures, developmental delays, and cognitive impairment.

What are the symptoms of Cerebral Folate Deficiency?

The symptoms of Cerebral Folate Deficiency (CFD) vary depending on the severity of the condition, but may include:

-Developmental delay


-Movement disorders

-Behavioral problems

-Speech and language delays

-Growth delays

-Feeding difficulties

-Hypotonia (low muscle tone)

-Cognitive impairment

-Visual impairment

-Hearing impairment

-Gastrointestinal problems

-Sleep disturbances

-Skin rashes

-Abnormal facial features

What are the causes of Cerebral Folate Deficiency?

Cerebral Folate Deficiency (CFD) is a rare genetic disorder caused by mutations in the MTHFR gene. This gene is responsible for producing an enzyme that helps the body process folate, a B vitamin. Without this enzyme, the body cannot properly process folate, leading to a deficiency. Other causes of CFD include certain medications, alcohol abuse, and malnutrition.

What are the treatments for Cerebral Folate Deficiency?

The primary treatment for Cerebral Folate Deficiency (CFD) is a combination of folinic acid (a form of folic acid) and betaine supplementation. Folinic acid is typically given in doses of 10-20 mg/kg/day, while betaine is typically given in doses of 5-10 mg/kg/day. Additionally, some patients may benefit from a gluten-free diet, as gluten can interfere with folate absorption. Other treatments may include vitamin B12 supplementation, dietary modifications, and anticonvulsant medications.

What are the risk factors for Cerebral Folate Deficiency?

1. Genetic mutations in the MTHFR gene
2. Low folate levels in the diet
3. Certain medications, such as anticonvulsants, methotrexate, and sulfasalazine
4. Alcoholism
5. Malabsorption syndromes, such as celiac disease
6. Pregnancy
7. Advanced age
8. Certain medical conditions, such as kidney or liver disease, HIV/AIDS, and cancer

Is there a cure/medications for Cerebral Folate Deficiency?

Yes, there are treatments available for Cerebral Folate Deficiency. Treatment typically involves a combination of medications, dietary changes, and supplements. Medications used to treat Cerebral Folate Deficiency include folinic acid, levomefolate, and folinic acid plus levomefolate. Dietary changes may include increasing folate-rich foods such as leafy green vegetables, legumes, and citrus fruits. Supplements such as folic acid, vitamin B12, and vitamin B6 may also be recommended.