Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have a developmental delay and develop epileptic seizures.
DHFR deficiency was first described in 2011 by two different groups of scientists independently.[2][1]
Referencesedit
^ abCario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K (February 2011). "Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease". American Journal of Human Genetics. 88 (2): 226–31. doi:10.1016/j.ajhg.2011.01.007. PMC3035706. PMID 21310277.
^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 (February 2011). "Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency". American Journal of Human Genetics. 88 (2): 216–25. doi:10.1016/j.ajhg.2011.01.004. PMC3035707. PMID 21310276.
External linksedit
OMIM 613839 - description in the OMIM database
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
dihydrofolate, reductase, deficiency, dhfr, deficiency, rare, inherited, disorder, folate, metabolism, caused, defects, dhfr, gene, disorder, inherited, autosomal, recessive, manner, present, with, megaloblastic, anemia, cerebral, folate, deficiency, neurologi. Dihydrofolate reductase deficiency DHFR deficiency is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia cerebral folate deficiency and neurological symptoms of varying type and severity The patient may have a developmental delay and develop epileptic seizures Contents 1 Treatment 2 History 3 References 4 External linksTreatment editFolinic acid a reduced form of folate is used to correct the reduced 5 MTHF levels in the cerebrospinal fluid and the anemia This reduces some symptoms of the disease 1 History editDHFR deficiency was first described in 2011 by two different groups of scientists independently 2 1 References edit a b Cario H Smith DE Blom H Blau N Bode H Holzmann K Pannicke U Hopfner KP Rump EM Ayric Z Kohne E Debatin KM Smulders Y Schwarz K February 2011 Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease American Journal of Human Genetics 88 2 226 31 doi 10 1016 j ajhg 2011 01 007 PMC 3035706 PMID 21310277 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 February 2011 Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency American Journal of Human Genetics 88 2 216 25 doi 10 1016 j ajhg 2011 01 004 PMC 3035707 PMID 21310276 External links editOMIM 613839 description in the OMIM database nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Dihydrofolate reductase deficiency amp oldid 1135078857, wikipedia, wiki, book, books, library,
