Haemolytic anaemia due to glutathione synthetase deficiency (Q92469)
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Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2135206332 |
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| English | Haemolytic anaemia due to glutathione synthetase deficiency |
Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
Statements
CID11:ID_2135206332
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