<unk>  (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.
Dihydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency
Purine nucleoside phosphorylase deficiency
Adenine phosphoribosyltransferase deficiency
Dihydropyrimidine dehydrogenase deficiency
Guanidinoacetate methyltransferase deficiency
5,10-methenyltetrahydrofolate synthetase deficiency
Mevalonate kinase deficiency