| H01197 | |
| H number | H01197 |
| Name | Dihydrofolate reductase 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 disorder |
| Network | nt06037(H01197) Histidine metabolism |
| Gene | DHFR [HSA:1719] [KO:K00287] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A02.Y MeSH: C565095 OMIM: 613839 |
| Reference | PMID:22108709 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) DOI:10.1007/s10545-011-9418-1 PMID:21388369 AUTHORS Wijesekara N TITLE Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. JOURNAL Clin Genet 79:507-8 (2011) DOI:10.1111/j.1399-0004.2011.01662.x PMID:21310276 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) DOI:10.1016/j.ajhg.2011.01.004 |