Congenital folate deficiency anaemia (Q68081)
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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 |
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| 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. |
