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Hereditary folate malabsorption

Disease definition

Hereditary 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.

ORPHA:90045

  • Synonym(s):
    • Congenital folate malabsorption
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D52.8
  • OMIM: 229050
  • UMLS: C0342705
  • MeSH: -
  • GARD: 12983
  • MedDRA: -

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