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Спадкова мальабсорбція фолатів

ORPHA:90045· ICD-10 E53.8· Hereditary folate malabsorption

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal