5.1.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

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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