Dihydrofolate reductase deficiency

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.

Treatment

Folinic 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

DHFR deficiency was first described in 2011 by two different groups of scientists independently.[2][1]

References
  1. 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.
  2. 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.
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