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Hereditary folate malabsorption
rareHereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
- Identifiers
- MONDO:0009238 OMIM:229050Orphanet:90045
- Causal genes
- SLC46A1
- Part of
- Disorder of folate metabolism and transportHereditary anemiaMalabsorption syndromeMegaloblastic anemia
- Also known as
- congenital defect of folate absorption · congenital folate malabsorption · folic acid transport defect
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