Hereditary folate malabsorption
Engelsk navn: Hereditary folate malabsorption
Engelske synonym: Congenital folate malabsorption
Definisjon
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.
Fra Orphanet
ORPHA: 90045
Klassifiseringsnivå: Disorder
ICD-10: D52.8