cerebral folate receptor alpha deficiency

A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epile

A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.

Signs and symptoms

• Developmental regression
• Seizure
• Neurodegeneration
• Intellectual disability

Also known as: Neurodegeneration due to cerebral folate transport deficiency