Cerebral folate deficiency (CFD): causes

Evidence-based neurology checklist on cerebral folate deficiency (cfd): causes: Genetic causes Folate receptor 1 (FOLR1) gene mutations Autism Metabolic causes Mitochondrial causes Drug-induced

Genetic causes

  • Folate receptor 1 (FOLR1) gene mutations
  • Autism

Metabolic causes

Mitochondrial causes

Drug-induced

References

  1. Ramaekers V, Sequeira JM, Quadros EV. Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med 2013; 51:497-511.
  2. Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol 2004; 46:843-851.
  3. Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab Dis 2010; 33:563-570. 
  4. Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009; 51:180-182.
  5. Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 2012; 135:2022-2031. 
  6. And 11 more. Subscribe to see the full list

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