5.01.h
Disorders of folate metabolism
- Proton-coupled folate transporter deficiency (Hereditary folate malabsorption)
- Folate receptor alpha deficiency (Neurodegeneration due to cerebral folate transport deficiency)
- Folate transporter 1 deficiency
- 5,10-methylenetetrahydrofolate reductase deficiency
- Methylenetetrahydrofolate dehydrogenase 1 deficiency (Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia – CIMAH)
- 5,10-methenyltetrahydrofolate synthetase deficiency (5-formyltetrahydrofolate cycloligase deficiency)
- Dihydrofolate reductase deficiency
- Formimidoyltransferase cyclodeaminase deficiency (Formiminoglutamic aciduria)
- Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
