Dihydrofolate reductase deficiency

Definition:

Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused by mutations in the DHFR gene.

References:

[1]. David Watkins, et al. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. J Inherit Metab Dis. 2012 Jul;35(4):665-70. [Content Brief]

[2]. N Wijesekara, et al. Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. Clin Genet. 2011 Jun;79(6):507-8. [Content Brief]

[3]. Siddharth Banka, et al. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet. 2011 Feb 11;88(2):216-25. [Content Brief]

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