DISEASE: Neurodegeneration due to cerebral folate transport deficiency
Entry
H01295 Disease
Name
Neurodegeneration due to cerebral folate transport deficiency
Description
Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Folate-receptor alpha (FOLR1) is of central importance for folate transport across the blood brain barrier via the choroid plexus. It has been reported that mutations in FOLR1 cause this disease. Folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C63 Disorders of vitamin or non-protein cofactor absorption or transport
H01295 Neurodegeneration due to cerebral folate transport deficiency
