" /> Haemolytic anaemia due to glutathione synthetase deficiency - CISMeF





Preferred Label : Haemolytic anaemia due to glutathione synthetase deficiency;

ICD-11 definition : Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by hemolytic anemia, 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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Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by hemolytic anemia, 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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29/07/2025


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