Cerebral folate deficiency syndrome, neurodegeneration due to cerebral folate transport deficiency, cerebral folate transport deficiency, FOLR1 deficiency[1][2]
5-methyltetrahydrofolate is decreased in concentration in the human brain
Causes
Genetic disorder,[2] autoantibodies
Diagnostic method
Lumbar puncture
Medication
Folinic acid
Frequency
FOLR1 mutation, <20 described cases[2]
Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood.[3] Symptoms typically appear at about 5 to 24 months of age.[3][2] Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures.[3]
One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1.[2][4] This is inherited in an autosomal recessive manner.[2] Other causes appear to be Kearns–Sayre syndrome[5] and autoantibodies to the folate receptor.[6][7][8]
For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time.[9][3] Fewer than 20 people with the FOLR1 defect have been described in the medical literature.[2]
^"Cerebral folate deficiency". rarediseases.info.nih.gov. Archived from the original on 8 January 2019. Retrieved 7 January 2019.
^ abcdefg"Cerebral folate transport deficiency". Genetics Home Reference. Retrieved 7 January 2019.
^ abcdGordon, N (2009). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. PMID 19260931. S2CID 7373721.
^Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal A, Artuch R (2012). "Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects". Drug Discovery Today. 17 (23–24): 1299–1306. doi:10.1016/j.drudis.2012.07.008. PMID 22835503.
^Baumgartner, MR (2013). Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handbook of Clinical Neurology. Vol. 113. pp. 1799–1810. doi:10.1016/B978-0-444-59565-2.00049-6. ISBN 9780444595652. PMID 23622402.
^Agadi S, Quach MM, Haneef Z (2013). "Vitamin-responsive epileptic encephalopathies in children". Epilepsy Research and Treatment. 2013: 510529. doi:10.1155/2013/510529. PMC 3745849. PMID 23984056.
^Phillip L. Pearl, MD (4 October 2012). Inherited Metabolic Epilepsies. Demos Medical Publishing. pp. 3–. ISBN 978-1-61705-056-5.
^Zhao R, Aluri S, Goldman ID (2017). "The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular Aspects of Medicine. 53: 57–72. doi:10.1016/j.mam.2016.09.002. PMC 5253092. PMID 27664775.
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