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Glutathione synthetase deficiency
What is Glutathione synthetase deficiency?
A rare disorder 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.
Other condition names
Worldwide: <1 in 1,000 000
Age of Onset
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
. Data version 1.3.16 / 4.1.7.