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
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
manner and may present with
megaloblastic anemia
Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of oxygen. Megaloblastic anemia results from inhibition of DNA replication, DNA synthesis during red blood cell production. ...
,
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
Folinic acid, also known as leucovorin, is a medication used to decrease the toxic effects of methotrexate and pyrimethamine. It is also used in combination with 5-fluorouracil to treat colorectal cancer and pancreatic cancer, may be used to ...
, 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.
History
DHFR deficiency was first described in 2011 by two different groups of scientists independently.
References
External links
OMIM 613839- description in the OMIM database
{{genetic-disorder-stub
Metabolic disorders