Cerebral folate deficiency

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Classification according to ICD-10
G31.9 degenerative disease of the nervous system, unspecified
ICD-10 online (WHO version 2019)

The Cerebral folate deficiency ( CFD ) is a disease in which an insufficient content of 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid of the person concerned is noted despite a normal 5-MTHF level in the blood serum. Another name is cerebral folate transport deficiency . The symptoms vary depending on the age and cause of the illness and can be associated with dyskinesia, ataxia, epileptic seizures and psychomotor retardation.

The disease is most pronounced with mutations in the FOLR1 gene, which is responsible for transporting folic acid into the central nervous system. The baby with the mutation (of the gene) is born healthy. The disease begins a little later - in early childhood - and is characterized by symptoms such as psychomotor retardation, ataxia, muscle tremors, chorea and myoclonic seizures. Hypomyelination can be seen on the MRI images. If folinic acid is given in good time, a significant improvement in condition can be achieved.

CFD can be seen in patients with Kearns-Sayre syndrome. The reason for the development of the disease is not fully understood in this case; it is assumed that the folate transport through the choroid plexus is disturbed in those affected. The cerebral folate deficiency may also occur in other mitochondrial diseases. It is also assumed that a large number of metabolic, genetic and other factors together lead to the development of this clinical picture.

diagnosis

A CSF examination for 5-MTHF is required for the diagnosis of cerebral folate deficiency.

therapy

The therapy of cerebral folate deficiency consists in the long-term administration of folinic acid , since the intake of folic acid does not lead to an increase in the 5-MTHF level in the CSF.

Individual evidence

  1. ↑ Hyland K, Shoffner J, Heales SJ: Cerebral folate deficiency . In: Journal of Inherited Metabolic Disease . 33, No. 5, 2010, pp. 563-570. doi : 10.1007 / s10545-010-9159-6 . PMID 20668945 .
  2. ↑ Vincent Th Ramaekers, Nenad Blau: Cerebral folate deficiency . In: Developmental Medicine & Child Neurology . tape 46 , no. 12 , November 10, 2004, ISSN  0012-1622 , doi : 10.1017 / s0012162204001471 .
  3. ↑ https://www.cfd-foundation.de/faq/
  4. ^ A. Garcia-Cazorla, EV Quadros, A. Nascimento, MT Garcia-Silva, P. Briones: MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY . In: Neurology . tape 70 , no. 16 , April 15, 2008, ISSN  0028-3878 , p. 1360–1362 , doi : 10.1212 / 01.wnl.0000309223.98616.e4 ( neurology.org [accessed July 18, 2019]).
  5. ↑ Sarah Mangold, Nenad Blau, Thomas Opladen, Robert Steinfeld, Britta Weßling: Cerebral folate deficiency: A neurometabolic syndrome? In: Molecular Genetics and Metabolism . tape 104 , no. 3 , November 2011, p. 369–372 , doi : 10.1016 / j.ymgme.2011.06.004 ( elsevier.com [accessed July 18, 2019]).
  6. ↑ Mercedes Serrano, Belén Pérez-Dueñas, Julio Montoya, Aida Ormazabal, Rafael Artuch: Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects . In: Drug Discovery Today . tape 17 , no. 23-24 , December 2012, pp. 1299–1306 , doi : 10.1016 / j.drudis.2012.07.008 ( elsevier.com [accessed July 18, 2019]).