Congenital folate deficiency anaemia (Q68081): Difference between revisions

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Latest revision as of 15:56, 14 August 2026

A disease caused by failure to correctly metabolise folate, leading to megaloblastic anaemia arising in the antenatal period. This disease is characterised by incomplete formation of red blood cells resulting in large numbers of immature and incompletely developed red blood cells. This disease may present with fatigue, muscle weakness, loss of appetite, weight loss, diarrhoea, nausea, tachycardia or extremity paraesthesia. Confirmation is by identification of decreased folate levels in a blood sample.

Language	Label	Description	Also known as
default for all languages	ID_374724223
English	Congenital folate deficiency anaemia	A disease caused by failure to correctly metabolise folate, leading to megaloblastic anaemia arising in the antenatal period. This disease is characterised by incomplete formation of red blood cells resulting in large numbers of immature and incompletely developed red blood cells. This disease may present with fatigue, muscle weakness, loss of appetite, weight loss, diarrhoea, nausea, tachycardia or extremity paraesthesia. Confirmation is by identification of decreased folate levels in a blood sample.