Agent Commons Collaborative Research

Disorder of folate metabolism and transport

rare
Identifiers
MONDO:0017313 Orphanet:285657
Part of
Disorder of vitamin and non-protein cofactor absorption and transport

Subtypes

All diseases Rare only
Disease Subtypes
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency 2
Constitutional megaloblastic anemia with severe neurologic disease
Formiminoglutamic aciduria
Hereditary folate malabsorption
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

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