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.

Lactic acidosis

An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.


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PMID (PMCID)
15519833
 FEMALE Infant, Newborn
[Gluthathion synthetase deficit in a newborn infant].
Fily A, Vaillant C, Truffert P, Rouland V, Dobbelaere D, Kacet N.
Arch Pediatr. 2004;11(11):1339-41.
We report an observation of a triplet newborn presenting with haemolysis, metabolic acidosis with no lactic acidosis revealing a glutathione synthetase deficiency.