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
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Nutritional or metabolic anaemias
3A02 Folate deficiency anaemia
H01197 Dihydrofolate reductase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06037 Histidine metabolism
H01197 Dihydrofolate reductase deficiency
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.
