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.
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