Haemolytic anaemia due to glutathione synthetase deficiency (Q92469): Difference between revisions
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Revision as of 07:36, 16 August 2026
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.
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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. |
