Cerebral folate deficiency (CFD): causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cerebral folate deficiency (CFD): causes. Folate receptor 1 (FOLR1) gene mutations, Autism. Fully referenced neurology checklist.
Genetic causes
- Folate receptor 1 (FOLR1) gene mutations
- Autism
Metabolic causes
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Mitochondrial causes
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Drug-induced
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References
- Ramaekers V, Sequeira JM, Quadros EV. Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med 2013; 51:497-511.
- Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol 2004; 46:843-851.
- Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab Dis 2010; 33:563-570.
- Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009; 51:180-182.
- 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.
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