KEGG   DISEASE: H01197Help
Entry
H01197                      Disease                                

Name
Dihydrofolate reductase (DHFR) deficiency
Description
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.
Category
Inherited metabolic disease; Hematologic disease
BRITE hierarchy
Pathway
One carbon pool by folate
Folate biosynthesis
Gene
DHFR [HSA:1719] [KO:K00287]
Drug
Folinic acid [DR:D07986]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:22108709 (description, gene, drug)
  Authors
Watkins D, Rosenblatt DS
  Title
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
  Journal
J Inherit Metab Dis 35:665-70 (2012)
Reference
PMID:21388369 (description, gene, drug)
  Authors
Wijesekara N
  Title
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.
  Journal
Clin Genet 79:507-8 (2011)
Reference
PMID:21310276 (description, gene, drug)
  Authors
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
  Title
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
  Journal
Am J Hum Genet 88:216-25 (2011)

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