Dihydrofolate reductase (DHFR) deficiency

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.

Inherited metabolic disease; Hematologic disease

DHFR [HSA:1719] [KO:K00287]

Folinic acid [DR:D07986]

PMID:22108709 (description, gene, drug)

Watkins D, Rosenblatt DS

Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

J Inherit Metab Dis 35:665-70 (2012)

PMID:21388369 (description, gene, drug)

Wijesekara N

Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.

Clin Genet 79:507-8 (2011)

PMID:21310276 (description, gene, drug)

Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Am J Hum Genet 88:216-25 (2011)