Cerebral folate deficiency

Cerebral Folate Deficiency
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, movement disorders, seizures
Complications	Intellectual disability, autism spectrum disorder
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, autoimmunity
Risks	N/A
Diagnosis	CSF analysis, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Folinic acid supplementation
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Cerebral Folate Deficiency (CFD) is a neurological disorder characterized by low levels of 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid (CSF) despite normal levels of folate in the blood. This condition can lead to a variety of neurological symptoms and developmental issues.

Signs and Symptoms

Individuals with cerebral folate deficiency may present with a range of symptoms, including:

• Developmental delay
• Movement disorders
• Seizures
• Ataxia
• Spasticity
• Autism spectrum disorder
• Intellectual disability

Causes

Cerebral folate deficiency can be caused by several factors, including:

• Genetic mutations affecting folate transport, such as mutations in the FOLR1 gene.
• Autoimmune disorders where antibodies interfere with folate transport across the blood-brain barrier.
• Secondary causes such as mitochondrial disorders or cerebral palsy.

Diagnosis

Diagnosis of cerebral folate deficiency typically involves:

• Analysis of 5-MTHF levels in the cerebrospinal fluid through a lumbar puncture.
• Genetic testing to identify mutations in genes related to folate transport.
• Testing for the presence of folate receptor autoantibodies.

Treatment

The primary treatment for cerebral folate deficiency is supplementation with folinic acid, which can help increase the levels of 5-MTHF in the CSF and alleviate symptoms. Early diagnosis and treatment are crucial for improving outcomes.

Prognosis

The prognosis for individuals with cerebral folate deficiency varies depending on the underlying cause and the timeliness of treatment. With appropriate management, some symptoms can be improved, but developmental delays and neurological impairments may persist.

See Also

• Folate deficiency
• Neurological disorder
• Genetic disorder

External Links

• Article on Cerebral Folate Deficiency
• Orphanet entry on Cerebral Folate Deficiency

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  5-Methyltetrahydrofolate

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  Cerebral Folate Deficiency - Cerebral CT-scan at 4 years old

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  Folic acid metabolism and 5-MTHF transport across the choroid plexus epithelium in the brain

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  Transport of folate compounds from the intestine to the brain and competitive inhibition of 5-MTHF transport by folic acid