OnlineIMD

21.8    Disorders of folate metabolism

  • Type
    Group
  • Disease group(s)
    • 21    Disorders of vitamin and cofactor metabolism
  • Child entries
    • Proton-coupled folate transporter deficiency
    • Folate receptor alpha deficiency
    • Folate transporter 1 deficiency
    • Capicua deficiency
    • 5,10-methylenetetrahydrofolate reductase deficiency
    • Mitochondrial serine hydroxymethyltransferase deficiency
    • Methylenetetrahydrofolate dehydrogenase 1 deficiency
    • 5,10-methenyltetrahydrofolate synthetase deficiency
    • Dihydrofolate reductase deficiency
    • Formimidoyltransferase cyclodeaminase deficiency
    • Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency